Variant report

Variant	nsv984477
Chromosome Location	chr12:122226309-122271532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5126)
CpG islands
(count:5619)
Chromatin interactive
region (count:188)
LncRNA
region (count:103)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:5126 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122238095-122238101	K562	blood:	n/a	n/a
2	ARID3A	chr12:122232830-122232947	K562	blood:	n/a	n/a
3	ARID3A	chr12:122232141-122232466	K562	blood:	n/a	n/a
4	ARID3A	chr12:122234938-122235370	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:122235027-122235204	K562	blood:	n/a	n/a
6	ARID3A	chr12:122232145-122232433	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:122240625-122241366	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:122230245-122230440	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:122238967-122238970	K562	blood:	n/a	n/a
10	ARID3A	chr12:122232723-122233092	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:122237387-122237599	K562	blood:	n/a	n/a
12	ARID3A	chr12:122231479-122231488	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:122250019-122250157	HepG2	liver:	n/a	n/a
14	ARID3A	chr12:122240198-122241431	K562	blood:	n/a	n/a
15	ATF2	chr12:122237611-122238226	GM12878	blood:	n/a	n/a
16	ATF2	chr12:122240497-122241321	GM12878	blood:	n/a	n/a
17	ATF2	chr12:122231929-122232540	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr12:122231635-122232734	GM12878	blood:	n/a	n/a
19	ATF2	chr12:122227145-122228683	GM12878	blood:	n/a	n/a
20	ATF2	chr12:122232737-122233234	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr12:122234871-122235388	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr12:122249187-122249715	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr12:122239728-122240247	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr12:122238747-122241161	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr12:122227640-122228085	GM12878	blood:	n/a	n/a
26	ATF2	chr12:122237679-122238267	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr12:122241028-122241507	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr12:122231933-122233303	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr12:122231625-122233258	GM12878	blood:	n/a	n/a
30	ATF2	chr12:122250007-122250500	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr12:122239216-122240166	GM12878	blood:	n/a	n/a
32	ATF2	chr12:122240444-122240951	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr12:122237639-122238405	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr12:122249169-122249528	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr12:122238772-122239245	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr12:122227153-122227428	GM12878	blood:	n/a	n/a
37	ATF2	chr12:122239528-122241264	GM12878	blood:	n/a	n/a
38	ATF3	chr12:122239180-122239848	A549	lung:	n/a	n/a
39	ATF3	chr12:122232002-122233316	A549	lung:	n/a	n/a
40	ATF3	chr12:122234849-122235818	A549	lung:	n/a	chr12:122235266-122235275
41	ATF3	chr12:122237819-122238308	K562	blood:	n/a	chr12:122238273-122238282 chr12:122238063-122238072
42	ATF3	chr12:122238283-122238602	K562	blood:	n/a	n/a
43	ATF3	chr12:122229544-122230516	A549	lung:	n/a	chr12:122230145-122230165
44	ATF3	chr12:122232052-122232431	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF3	chr12:122249838-122250314	A549	lung:	n/a	n/a
46	ATF3	chr12:122232045-122232438	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF3	chr12:122240475-122241533	A549	lung:	n/a	n/a
48	ATF3	chr12:122231959-122232534	A549	lung:	n/a	n/a
49	ATF3	chr12:122237843-122238214	K562	blood:	n/a	chr12:122238063-122238072
50	ATF3	chr12:122232089-122232408	K562	blood:	n/a	n/a

(count:5619 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122244223-122244273	HCF	heart:	n/a
2	chr12:122244660-122244710	NH-A	brain:	n/a
3	chr12:122251152-122251202	HEK293	kidney:	embryo
4	chr12:122243810-122243860	MCF10A-Er-Src	breast:	n/a
5	chr12:122239014-122239064	HRCEpiC	kidney:	n/a
6	chr12:122239014-122239064	SK-N-SH_RA	brain:	n/a
7	chr12:122268197-122268247	HCF	heart:	n/a
8	chr12:122244223-122244273	HCF	heart:	n/a
9	chr12:122244660-122244710	NH-A	brain:	n/a
10	chr12:122251152-122251202	HEK293	kidney:	embryo
11	chr12:122243810-122243860	MCF10A-Er-Src	breast:	n/a
12	chr12:122239014-122239064	HRCEpiC	kidney:	n/a
13	chr12:122239014-122239064	SK-N-SH_RA	brain:	n/a
14	chr12:122268197-122268247	HCF	heart:	n/a
15	chr12:122265583-122265633	HepG2	liver:	n/a
16	chr12:122251088-122251138	AG09309	skin:	n/a
17	chr12:122231626-122231676	AG10803	skin:	n/a
18	chr12:122255296-122255346	U87	brain:	n/a
19	chr12:122268197-122268247	K562	blood:	n/a
20	chr12:122251088-122251138	NT2-D1	testis:	n/a
21	chr12:122265583-122265633	AG10803	skin:	n/a
22	chr12:122235169-122235219	Caco-2	colon:	n/a
23	chr12:122243328-122243378	Hepatocyte	liver:	n/a
24	chr12:122249951-122250001	GM12878	blood:	n/a
25	chr12:122251088-122251138	Hela-S3	cervix:	n/a
26	chr12:122242517-122242567	NB4	blood:	n/a
27	chr12:122255296-122255346	AG09319	gingival:	n/a
28	chr12:122250518-122250568	H1-hESC	embryonic stem cell:	embryo
29	chr12:122235560-122235610	NT2-D1	testis:	n/a
30	chr12:122269675-122269725	HepG2	liver:	n/a
31	chr12:122243328-122243378	HCT-116	colon:	n/a
32	chr12:122231927-122231977	Jurkat	blood:	n/a
33	chr12:122251088-122251138	AG10803	skin:	n/a
34	chr12:122232358-122232408	SK-N-SH	brain:	n/a
35	chr12:122242517-122242567	SAEC	small airway:	n/a
36	chr12:122255346-122255396	NHDF-neo	bronchial:	n/a
37	chr12:122241952-122242002	HIPEpiC	eye:	n/a
38	chr12:122261828-122261878	MCF10A-Er-Src	breast:	n/a
39	chr12:122268629-122268679	HRE	kidney:	n/a
40	chr12:122231866-122231916	HRPEpiC	eye:	n/a
41	chr12:122241438-122241488	AG09309	skin:	n/a
42	chr12:122238038-122238088	SK-N-SH_RA	brain:	n/a
43	chr12:122231927-122231977	HCPEpiC	choroid plexus:	n/a
44	chr12:122238672-122238722	PrEC	prostate:	n/a
45	chr12:122231455-122231505	Hela-S3	cervix:	n/a
46	chr12:122269075-122269125	AG04449	skin:	fetal
47	chr12:122235560-122235610	HCF	heart:	n/a
48	chr12:122242756-122242806	SK-N-SH	brain:	n/a
49	chr12:122261499-122261549	Jurkat	blood:	n/a
50	chr12:122269623-122269673	Caco-2	colon:	n/a

(count:188 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:122239996..122242315-chr12:122299933..122302886,2	MCF-7	breast:
2	chr12:122232741..122233424-chr12:122327007..122327516,2	MCF-7	breast:
3	chr12:122240438..122241162-chr7:100183249..100183778,2	Hela-S3	cervix:
4	chr12:122237332..122242839-chr17:57920693..57925352,4	MCF-7	breast:
5	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
6	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
7	chr12:122230934..122231621-chr19:39926580..39927261,2	Hela-S3	cervix:
8	chr12:122248656..122250378-chr12:122275889..122277499,2	K562	blood:
9	chr12:122235746..122237932-chr12:122463152..122466660,3	K562	blood:
10	chr12:122252204..122254441-chr12:122329779..122332454,2	K562	blood:
11	chr12:122232866..122235205-chr12:122514967..122518209,3	K562	blood:
12	chr12:122240439..122241160-chr19:531479..532047,2	Hela-S3	cervix:
13	chr12:122214221..122214729-chr12:122234661..122235608,2	K562	blood:
14	chr12:122063594..122065295-chr12:122238095..122240834,2	K562	blood:
15	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
16	chr12:122237269..122237964-chr17:47268972..47269796,2	Hela-S3	cervix:
17	chr12:122202998..122205490-chr12:122248231..122250128,2	K562	blood:
18	chr12:52445080..52445681-chr12:122240670..122241273,2	Hela-S3	cervix:
19	chr12:122127725..122130645-chr12:122248269..122249908,2	MCF-7	breast:
20	chr12:122231121..122231717-chr7:44836710..44837609,2	Hela-S3	cervix:
21	chr12:122269742..122274031-chr12:122274605..122278008,6	MCF-7	breast:
22	chr12:122015890..122017624-chr12:122230329..122231836,2	MCF-7	breast:
23	chr12:122260091..122262315-chr12:122326124..122328233,2	MCF-7	breast:
24	chr12:122240321..122240932-chr9:138392556..138393555,2	Hela-S3	cervix:
25	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
26	chr12:122238420..122240403-chr5:140026745..140028353,2	MCF-7	breast:
27	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
28	chr12:49524654..49525593-chr12:122240777..122241341,2	Hela-S3	cervix:
29	chr12:122237414..122239746-chr17:48943458..48945237,2	MCF-7	breast:
30	chr12:122229734..122230507-chr2:69664172..69665149,2	Hela-S3	cervix:
31	chr12:121975169..121976051-chr12:122240783..122241487,2	NB4	blood:
32	chr12:122257311..122259605-chr12:122263406..122267409,4	MCF-7	breast:
33	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
34	chr12:122240319..122241148-chr7:44836026..44836677,2	NB4	blood:
35	chr12:121974810..121976577-chr12:122237441..122239422,3	MCF-7	breast:
36	chr12:122232180..122234901-chr12:122344222..122346588,2	K562	blood:
37	chr12:122235189..122237423-chr17:56708263..56710518,2	MCF-7	breast:
38	chr12:122138274..122140885-chr12:122248656..122250859,2	MCF-7	breast:
39	chr12:122257311..122259605-chr12:122263406..122267409,4	MCF-7	breast:
40	chr12:122240711..122241221-chr16:2033983..2034692,2	Hela-S3	cervix:
41	chr12:122237348..122239673-chr20:55840196..55842949,3	MCF-7	breast:
42	chr12:122240395..122241119-chr16:75589970..75590470,2	NB4	blood:
43	chr12:122240911..122241575-chr15:77363083..77363808,2	NB4	blood:
44	chr12:122248261..122250209-chr12:122294921..122296853,2	MCF-7	breast:
45	chr12:122260634..122262988-chr12:122263778..122265439,3	K562	blood:
46	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
47	chr12:122233788..122236172-chr12:122398855..122400644,2	MCF-7	breast:
48	chr12:122231820..122233222-chr12:122248899..122249520,4	MCF-7	breast:
49	chr12:122232032..122233517-chr12:122325701..122326925,10	MCF-7	breast:
50	chr12:122235040..122237798-chr4:15655451..15658367,2	MCF-7	breast:

(count:103 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
2	lnc-RHOF-1	chr12:122240537-122240852	ENSG00000212694.4
3	lnc-RHOF-1	chr12:122240537-122240690	ENSG00000212694.4
4	lnc-RHOF-1	chr12:122235975-122237103	NONHSAT031461
5	lnc-RHOF-1	chr12:122234097-122234148	NONHSAT031454
6	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
7	lnc-RHOF-1	chr12:122237645-122237862	NONHSAT031468
8	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
9	lnc-RHOF-1	chr12:122234097-122234148	ENSG00000212694.4
10	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
11	lnc-RHOF-1	chr12:122239613-122240060	NONHSAT031467
12	lnc-RHOF-1	chr12:122240537-122240692	NONHSAT031461
13	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
14	lnc-RHOF-1	chr12:122234097-122234148	ENSG00000212694.4
15	lnc-RHOF-1	chr12:122234097-122234148	NONHSAT031450
16	lnc-RHOF-1	chr12:122240537-122240712	ENSG00000212694.4
17	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
18	lnc-RHOF-1	chr12:122240785-122240851	ENSG00000212694.4
19	lnc-RHOF-1	chr12:122238754-122238913	ENSG00000212694.4
20	lnc-RHOF-1	chr12:122239613-122240510	ENSG00000212694.4
21	lnc-RHOF-1	chr12:122240537-122240690	ENSG00000212694.4
22	lnc-RHOF-1	chr12:122234097-122234148	NONHSAT031455
23	lnc-RHOF-1	chr12:122239613-122239891	NONHSAT031458
24	lnc-RHOF-1	chr12:122239478-122239514	ENSG00000212694.4
25	lnc-RHOF-1	chr12:122233178-122233632	NONHSAT031450
26	lnc-CAMKK2-1	chr12:122225927-122226808	ENSG00000214271
27	lnc-RHOF-1	chr12:122233165-122234148	NONHSAT031446
28	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031452
29	lnc-RHOF-1	chr12:122239613-122240053	NONHSAT031450
30	lnc-RHOF-1	chr12:122240785-122240839	ENSG00000212694.4
31	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031446
32	lnc-RHOF-1	chr12:122233799-122234148	ENSG00000212694.4
33	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031455
34	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
35	lnc-RHOF-1	chr12:122239613-122240308	ENSG00000212694.4
36	lnc-RHOF-1	chr12:122240785-122241674	NONHSAT031462
37	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031461
38	lnc-RHOF-1	chr12:122233476-122233632	ENSG00000212694.4
39	lnc-SETD1B-3	chr12:122237749-122237862	NONHSAT031445
40	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
41	lnc-RHOF-1	chr12:122233546-122234148	ENSG00000212694.4
42	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031455
43	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
44	lnc-RHOF-1	chr12:122240537-122240792	ENSG00000212694.4
45	lnc-RHOF-1	chr12:122233178-122236657	NONHSAT031451
46	lnc-SETD1B-3	chr12:122233120-122234144	NONHSAT031445
47	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
48	lnc-RHOF-1	chr12:122240785-122240816	ENSG00000212694.4
49	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
50	lnc-RHOF-1	chr12:122240781-122240821	NONHSAT031457

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SETD1B	hsa-miR-25-3p	chr12:122270236-122270242
2	SETD1B	hsa-miR-92a-3p	chr12:122270236-122270242
3	SETD1B	hsa-miR-103a-3p	chr12:122268485-122268506
4	SETD1B	hsa-miR-103a-3p	chr12:122268499-122268505
5	SETD1B	hsa-miR-16-5p	chr12:122268486-122268507
6	SETD1B	hsa-miR-16-5p	chr12:122268500-122268507

Variant related genes	Relation type
SETD1B	TF binding region
ENSG00000212694	TF binding region
RHOF	TF binding region
ENSG00000272849	TF binding region
SETD1B	CpG island
ENSG00000212694	CpG island
RHOF	CpG island
ENSG00000272849	CpG island
ENSG00000029363	chromatin interactions
ENSG00000122140	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000158104	chromatin interactions
ENSG00000180879	chromatin interactions
ENSG00000171471	chromatin interactions
ENSG00000256546	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000047249	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000256742	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000239082	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000173575	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000140391	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000067829	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000158113	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000141012	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000144580	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000255989	chromatin interactions
ENSG00000196152	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000099804	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000167515	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000234776	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000179091	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000116299	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000169599	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000196408	chromatin interactions
ENSG00000239195	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000118564	chromatin interactions
ENSG00000185684	chromatin interactions
KLF4	miRNA target sites

Extended variants
information (count: 1789 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1789 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534093259	chr12:122226334-122226335	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs559238007	chr12:122226373-122226374	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs540822638	chr12:122226374-122226375	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs141867588	chr12:122226381-122226382	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs556671485	chr12:122226396-122226397	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs375542474	chr12:122226450-122226451	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs575138857	chr12:122226455-122226456	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs542749523	chr12:122226513-122226514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs560938704	chr12:122226515-122226516	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs528312980	chr12:122226517-122226518	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs577436052	chr12:122226524-122226525	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs1168667	chr12:122226529-122226530	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs565214315	chr12:122226535-122226536	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs532303016	chr12:122226561-122226562	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs79052593	chr12:122226565-122226566	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs569161000	chr12:122226586-122226587	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs530008144	chr12:122226607-122226608	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs577748127	chr12:122226638-122226639	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs190776976	chr12:122226671-122226672	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs115408802	chr12:122226678-122226679	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs147102042	chr12:122226685-122226686	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs531309536	chr12:122226718-122226719	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs11834385	chr12:122226813-122226814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151094972	chr12:122226814-122226815	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538163053	chr12:122226856-122226857	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556772720	chr12:122226858-122226859	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73229932	chr12:122226872-122226873	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183013690	chr12:122226924-122226925	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554741424	chr12:122226925-122226926	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141024001	chr12:122226941-122226942	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564922742	chr12:122226981-122226982	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372150762	chr12:122227013-122227014	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576923332	chr12:122227049-122227050	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544200233	chr12:122227061-122227062	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562767296	chr12:122227093-122227094	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150227655	chr12:122227100-122227101	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548154906	chr12:122227123-122227124	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5801463	chr12:122227152-122227153	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560258390	chr12:122227162-122227163	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186532646	chr12:122227240-122227241	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191442693	chr12:122227241-122227242	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182818077	chr12:122227250-122227251	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538409071	chr12:122227262-122227263	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373793974	chr12:122227266-122227267	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187942781	chr12:122227307-122227308	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536282658	chr12:122227321-122227322	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554602194	chr12:122227354-122227355	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114350225	chr12:122227407-122227408	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547167563	chr12:122227445-122227446	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1168668	chr12:122227451-122227452	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3421 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
4	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:122219000-122227400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:122219000-122229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
12	chr12:122219600-122230800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:122220200-122226600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:122220400-122230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:122220400-122230600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:122220600-122227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:122220600-122227400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:122220600-122228000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:122220600-122230400	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:122220600-122230400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:122220800-122226400	Weak transcription	K562	blood
22	chr12:122220800-122227600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:122220800-122228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:122220800-122228200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:122220800-122229600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:122221200-122226400	Weak transcription	Lung	lung
27	chr12:122221200-122230600	Weak transcription	Right Atrium	heart
28	chr12:122223200-122226600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:122223200-122227200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:122223200-122228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122223200-122231400	Weak transcription	HSMM	muscle
32	chr12:122223600-122228600	Enhancers	Placenta	Placenta
33	chr12:122224000-122227000	Genic enhancers	Fetal Thymus	thymus
34	chr12:122224000-122229400	Genic enhancers	Fetal Intestine Small	intestine
35	chr12:122224200-122226400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:122224200-122226400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr12:122224200-122226600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:122224200-122226800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:122224200-122227000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:122224200-122227400	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:122224200-122228400	Enhancers	Stomach Mucosa	stomach
42	chr12:122224200-122228800	Genic enhancers	Fetal Intestine Large	intestine
43	chr12:122224200-122229000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:122224400-122226400	Strong transcription	Dnd41	blood
45	chr12:122224400-122227200	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:122224400-122227600	Enhancers	Small Intestine	intestine
47	chr12:122224400-122227800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:122224600-122227000	Enhancers	Primary B cells from cord blood	blood
49	chr12:122224600-122227600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:122224600-122231200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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