Variant report

Variant	nsv899567
Chromosome Location	chr12:122203680-122281575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7591)
CpG islands
(count:6596)
Chromatin interactive
region (count:300)
LncRNA
region (count:120)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122234938-122235370	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:122240625-122241366	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:122211141-122211434	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:122219952-122220152	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:122238967-122238970	K562	blood:	n/a	n/a
6	ARID3A	chr12:122240198-122241431	K562	blood:	n/a	n/a
7	ARID3A	chr12:122277309-122277507	K562	blood:	n/a	n/a
8	ARID3A	chr12:122230245-122230440	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:122232141-122232466	K562	blood:	n/a	n/a
10	ARID3A	chr12:122232145-122232433	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:122232830-122232947	K562	blood:	n/a	n/a
12	ARID3A	chr12:122231479-122231488	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:122238095-122238101	K562	blood:	n/a	n/a
14	ARID3A	chr12:122235027-122235204	K562	blood:	n/a	n/a
15	ARID3A	chr12:122237387-122237599	K562	blood:	n/a	n/a
16	ARID3A	chr12:122232723-122233092	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:122250019-122250157	HepG2	liver:	n/a	n/a
18	ATF1	chr12:122219939-122220233	K562	blood:	n/a	n/a
19	ATF2	chr12:122214016-122214438	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr12:122213989-122214733	GM12878	blood:	n/a	n/a
21	ATF2	chr12:122231635-122232734	GM12878	blood:	n/a	n/a
22	ATF2	chr12:122232737-122233234	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr12:122227145-122228683	GM12878	blood:	n/a	n/a
24	ATF2	chr12:122227640-122228085	GM12878	blood:	n/a	n/a
25	ATF2	chr12:122234871-122235388	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr12:122240497-122241321	GM12878	blood:	n/a	n/a
27	ATF2	chr12:122239728-122240247	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr12:122219720-122220867	GM12878	blood:	n/a	n/a
29	ATF2	chr12:122238772-122239245	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr12:122239528-122241264	GM12878	blood:	n/a	n/a
31	ATF2	chr12:122211053-122211498	GM12878	blood:	n/a	n/a
32	ATF2	chr12:122237639-122238405	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr12:122231929-122232540	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr12:122238747-122241161	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr12:122227153-122227428	GM12878	blood:	n/a	n/a
36	ATF2	chr12:122249187-122249715	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr12:122241028-122241507	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr12:122239216-122240166	GM12878	blood:	n/a	n/a
39	ATF2	chr12:122249169-122249528	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr12:122237679-122238267	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr12:122240444-122240951	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr12:122250007-122250500	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr12:122231933-122233303	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr12:122219756-122220576	GM12878	blood:	n/a	n/a
45	ATF2	chr12:122231625-122233258	GM12878	blood:	n/a	n/a
46	ATF2	chr12:122237611-122238226	GM12878	blood:	n/a	n/a
47	ATF2	chr12:122214054-122214360	GM12878	blood:	n/a	n/a
48	ATF3	chr12:122224238-122224759	A549	lung:	n/a	n/a
49	ATF3	chr12:122210884-122211520	A549	lung:	n/a	n/a
50	ATF3	chr12:122232002-122233316	A549	lung:	n/a	n/a

(count:6596 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122250518-122250568	A549	lung:	n/a
2	chr12:122241409-122241459	HEK293	kidney:	embryo
3	chr12:122249869-122249919	AG10803	skin:	n/a
4	chr12:122238218-122238268	BJ	skin:	n/a
5	chr12:122255456-122255506	HCF	heart:	n/a
6	chr12:122277522-122277572	HL-60	blood:	n/a
7	chr12:122249869-122249919	GM12891	blood:	n/a
8	chr12:122244660-122244710	ProgFib	skin:	n/a
9	chr12:122250518-122250568	A549	lung:	n/a
10	chr12:122241409-122241459	HEK293	kidney:	embryo
11	chr12:122249869-122249919	AG10803	skin:	n/a
12	chr12:122238218-122238268	BJ	skin:	n/a
13	chr12:122255456-122255506	HCF	heart:	n/a
14	chr12:122277522-122277572	HL-60	blood:	n/a
15	chr12:122249869-122249919	GM12891	blood:	n/a
16	chr12:122244660-122244710	ProgFib	skin:	n/a
17	chr12:122252646-122252696	IMR90	lung:	fetal
18	chr12:122252518-122252568	SK-N-MC	brain:	n/a
19	chr12:122265491-122265541	GM06990	blood:	n/a
20	chr12:122281432-122281482	HMEC	breast:	n/a
21	chr12:122277522-122277572	GM12891	blood:	n/a
22	chr12:122243810-122243860	AoSMC	blood vessel:	n/a
23	chr12:122242606-122242656	SKMC	muscle:	n/a
24	chr12:122277439-122277489	H1-hESC	embryonic stem cell:	embryo
25	chr12:122269184-122269234	HL-60	blood:	n/a
26	chr12:122242517-122242567	HRCEpiC	kidney:	n/a
27	chr12:122242600-122242650	SK-N-MC	brain:	n/a
28	chr12:122249951-122250001	NT2-D1	testis:	n/a
29	chr12:122238038-122238088	HMEC	breast:	n/a
30	chr12:122241461-122241511	T-47D	breast:	n/a
31	chr12:122241422-122241472	SK-N-SH_RA	brain:	n/a
32	chr12:122277439-122277489	ECC-1	luminal epithelium:	n/a
33	chr12:122261162-122261212	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:122255346-122255396	AG10803	skin:	n/a
35	chr12:122242517-122242567	NB4	blood:	n/a
36	chr12:122211282-122211332	Jurkat	blood:	n/a
37	chr12:122249951-122250001	Caco-2	colon:	n/a
38	chr12:122241461-122241511	HCT-116	colon:	n/a
39	chr12:122277851-122277901	T-47D	breast:	n/a
40	chr12:122269075-122269125	HepG2	liver:	n/a
41	chr12:122235169-122235219	PFSK-1	brain:	n/a
42	chr12:122251088-122251138	SK-N-SH_RA	brain:	n/a
43	chr12:122242756-122242806	H1-hESC	embryonic stem cell:	embryo
44	chr12:122244660-122244710	NT2-D1	testis:	n/a
45	chr12:122255346-122255396	MCF-7	breast:	n/a
46	chr12:122242586-122242636	HMEC	breast:	n/a
47	chr12:122237463-122237513	BE2_C	brain:	n/a
48	chr12:122266596-122266646	K562	blood:	n/a
49	chr12:122251152-122251202	AG09319	gingival:	n/a
50	chr12:122205609-122205659	BJ	skin:	n/a

(count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:120727170..120730056-chr12:122229573..122231675,2	MCF-7	breast:
2	chr12:122237414..122239746-chr17:48943458..48945237,2	MCF-7	breast:
3	chr12:122240439..122241160-chr19:531479..532047,2	Hela-S3	cervix:
4	chr12:122231121..122231717-chr7:44836710..44837609,2	Hela-S3	cervix:
5	chr12:122235892..122238477-chr2:235091344..235092959,2	MCF-7	breast:
6	chr12:122134674..122135744-chr12:122210813..122211800,14	K562	blood:
7	chr12:122275909..122280625-chr12:122324321..122327791,8	MCF-7	breast:
8	chr12:121788398..121791185-chr12:122239854..122241359,2	MCF-7	breast:
9	chr12:122237205..122238947-chr12:122709096..122710729,2	K562	blood:
10	chr12:121935059..121936948-chr12:122215760..122217685,2	MCF-7	breast:
11	chr12:122134662..122135654-chr12:122210878..122211737,2	MCF-7	breast:
12	chr12:122063951..122065995-chr12:122247788..122250462,2	K562	blood:
13	chr12:122248261..122250209-chr12:122294921..122296853,2	MCF-7	breast:
14	chr12:122240928..122242947-chr12:122294701..122297543,2	MCF-7	breast:
15	chr12:122217066..122219995-chr12:122220346..122223627,4	MCF-7	breast:
16	chr12:122017334..122020292-chr12:122231782..122234542,4	K562	blood:
17	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
18	chr12:122216201..122218544-chr12:122220514..122222536,2	K562	blood:
19	chr12:122232516..122233068-chr12:122251132..122251938,2	MCF-7	breast:
20	chr12:122217817..122222625-chr12:122235790..122242692,8	K562	blood:
21	chr12:122275590..122277835-chr12:122486221..122487866,2	K562	blood:
22	chr12:121990627..121991186-chr12:122210896..122211757,2	K562	blood:
23	chr12:122188669..122193873-chr12:122227176..122233304,8	MCF-7	breast:
24	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
25	chr12:122214559..122216075-chr12:122238255..122240656,2	K562	blood:
26	chr12:122276049..122279588-chr12:122294411..122297948,4	MCF-7	breast:
27	chr12:122269742..122274031-chr12:122274605..122278008,6	MCF-7	breast:
28	chr12:122212881..122214653-chr12:122222807..122224328,2	MCF-7	breast:
29	chr12:122181449..122183305-chr12:122208481..122211230,2	MCF-7	breast:
30	chr12:120727962..120730106-chr12:122235107..122237468,3	K562	blood:
31	chr12:52445080..52445681-chr12:122240670..122241273,2	Hela-S3	cervix:
32	chr12:122277992..122280217-chr12:122283383..122286165,2	MCF-7	breast:
33	chr12:122259672..122261215-chr12:122262600..122265504,2	MCF-7	breast:
34	chr12:122222027..122223531-chr12:122224930..122227928,2	MCF-7	breast:
35	chr12:116997056..116999076-chr12:122230249..122232872,2	K562	blood:
36	chr12:122216302..122217175-chr2:177703580..177704358,2	MCF-7	breast:
37	chr12:122237348..122239673-chr20:55840196..55842949,3	MCF-7	breast:
38	chr12:122252204..122254441-chr12:122329779..122332454,2	K562	blood:
39	chr12:122237028..122239073-chr12:122370482..122372481,2	K562	blood:
40	chr12:122234579..122235389-chr12:122249283..122250469,4	K562	blood:
41	chr12:122191495..122194594-chr12:122209584..122212747,5	MCF-7	breast:
42	chr12:122145250..122147577-chr12:122276156..122278348,3	K562	blood:
43	chr12:122239049..122240564-chr12:122299953..122302949,2	K562	blood:
44	chr12:122213783..122214655-chr12:122231473..122233403,7	MCF-7	breast:
45	chr12:122248656..122250378-chr12:122275889..122277499,2	K562	blood:
46	chr12:53341228..53343679-chr12:122240753..122243442,2	MCF-7	breast:
47	chr1:116445666..116447671-chr12:122232460..122234006,2	MCF-7	breast:
48	chr12:122220378..122221895-chr12:122249646..122252036,2	K562	blood:
49	chr12:122276052..122278154-chr12:122709058..122710817,2	MCF-7	breast:
50	chr12:122207127..122210356-chr12:122210673..122214780,4	K562	blood:

(count:120 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122237755-122237862	ENSG00000212694.4
2	lnc-SETD1B-2	chr12:122239669-122239878	ENSG00000272849.1
3	lnc-RHOF-1	chr12:122239613-122239891	NONHSAT031458
4	lnc-RHOF-1	chr12:122234097-122234148	ENSG00000212694.4
5	lnc-RHOF-1	chr12:122233178-122236657	NONHSAT031451
6	lnc-RHOF-1	chr12:122233187-122233632	NONHSAT031454
7	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
8	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031446
9	lnc-RHOF-1	chr12:122233204-122234148	NONHSAT031457
10	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
11	lnc-SETD1B-4	chr12:122215983-122216262	NONHSAT031440
12	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031452
13	lnc-RHOF-1	chr12:122233178-122233632	NONHSAT031449
14	lnc-RHOF-1	chr12:122240537-122240712	ENSG00000212694.4
15	lnc-SETD1B-2	chr12:122235417-122235778	ENSG00000272849.1
16	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
17	lnc-RHOF-1	chr12:122239613-122240510	ENSG00000212694.4
18	lnc-RHOF-1	chr12:122237645-122237862	NONHSAT031468
19	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
20	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031468
21	lnc-RHOF-1	chr12:122238754-122238913	ENSG00000212694.4
22	lnc-RHOF-1	chr12:122239478-122239514	ENSG00000212694.4
23	lnc-RHOF-1	chr12:122240537-122240692	NONHSAT031461
24	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031455
25	lnc-RHOF-1	chr12:122234097-122234148	NONHSAT031454
26	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031446
27	lnc-RHOF-1	chr12:122233476-122233632	ENSG00000212694.4
28	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031458
29	lnc-SETD1B-4	chr12:122214169-122214350	NONHSAT031438
30	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
31	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031450
32	lnc-RHOF-1	chr12:122240781-122240821	NONHSAT031457
33	lnc-SETD1B-4	chr12:122215983-122216033	NONHSAT031438
34	lnc-RHOF-1	chr12:122234097-122234148	ENSG00000212694.4
35	lnc-SETD1B-3	chr12:122237749-122237862	NONHSAT031445
36	lnc-RHOF-1	chr12:122240537-122240792	ENSG00000212694.4
37	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
38	lnc-RHOF-1	chr12:122237753-122238064	NONHSAT031454
39	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031457
40	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
41	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031452
42	lnc-RHOF-1	chr12:122237290-122237563	ENSG00000212694.4
43	lnc-RHOF-1	chr12:122234097-122237538	NONHSAT031449
44	lnc-RHOF-1	chr12:122240537-122240975	NONHSAT031468
45	lnc-RHOF-1	chr12:122240537-122240849	ENSG00000212694.4
46	lnc-RHOF-1	chr12:122240537-122240870	NONHSAT031446
47	lnc-RHOF-1	chr12:122237459-122237563	ENSG00000212694.4
48	lnc-RHOF-1	chr12:122237753-122238382	NONHSAT031456
49	lnc-RHOF-1	chr12:122240785-122240851	ENSG00000212694.4
50	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4

No data

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

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

Variant related genes	Relation type
SETD1B	TF binding region
ENSG00000212694	TF binding region
TMEM120B	TF binding region
RHOF	TF binding region
ENSG00000272849	TF binding region
SETD1B	CpG island
ENSG00000212694	CpG island
TMEM120B	CpG island
RHOF	CpG island
ENSG00000272849	CpG island
ENSG00000196262	chromatin interactions
ENSG00000180879	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000256742	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000173575	chromatin interactions
ENSG00000158113	chromatin interactions
ENSG00000271912	chromatin interactions
ENSG00000239195	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000255989	chromatin interactions
ENSG00000179091	chromatin interactions
ENSG00000171471	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000169599	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000118564	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000196408	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000122140	chromatin interactions
ENSG00000256546	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000272849	chromatin interactions
ENSG00000158104	chromatin interactions
ENSG00000234776	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000239082	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000144580	chromatin interactions
ENSG00000067829	chromatin interactions
ENSG00000116299	chromatin interactions
ENSG00000141012	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000099804	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000140391	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000167515	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000185684	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000047249	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000196152	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000196924	chromatin interactions
MATR3	miRNA target sites
KLF4	miRNA target sites

Extended variants
information (count: 3352 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3352 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10840615	chr12:122203680-122203681	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540822439	chr12:122203682-122203683	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530451839	chr12:122203711-122203712	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375057244	chr12:122203773-122203774	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548457836	chr12:122203774-122203775	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566790752	chr12:122203800-122203801	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560802686	chr12:122203813-122203814	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111356284	chr12:122203818-122203819	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532825228	chr12:122203847-122203848	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534339050	chr12:122203874-122203875	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552507239	chr12:122203887-122203888	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571330672	chr12:122203888-122203889	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182562493	chr12:122203889-122203890	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543078432	chr12:122203893-122203894	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552215717	chr12:122203899-122203900	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557170290	chr12:122203902-122203903	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2707068	chr12:122203915-122203916	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs536414572	chr12:122203966-122203967	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187691391	chr12:122203980-122203981	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531436767	chr12:122203997-122203998	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554922474	chr12:122204012-122204013	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs573126215	chr12:122204032-122204033	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs540639449	chr12:122204037-122204038	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs565268716	chr12:122204041-122204042	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs192540293	chr12:122204042-122204043	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs184578671	chr12:122204065-122204066	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs2707069	chr12:122204084-122204085	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553491653	chr12:122204109-122204110	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs530248128	chr12:122204127-122204128	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs140427537	chr12:122204146-122204147	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs573300672	chr12:122204157-122204158	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs73411779	chr12:122204190-122204191	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570437241	chr12:122204192-122204193	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs546232715	chr12:122204198-122204199	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs146343548	chr12:122204213-122204214	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370698510	chr12:122204214-122204215	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373320318	chr12:122204215-122204216	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189030031	chr12:122204234-122204235	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558920989	chr12:122204236-122204237	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369112108	chr12:122204242-122204243	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538757042	chr12:122204244-122204245	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550416488	chr12:122204253-122204254	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192009238	chr12:122204299-122204300	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12316528	chr12:122204325-122204326	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150385120	chr12:122204335-122204336	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529826715	chr12:122204392-122204393	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548011666	chr12:122204408-122204409	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138074341	chr12:122204461-122204462	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149522095	chr12:122204473-122204474	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77902944	chr12:122204487-122204488	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

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:5166 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
3	chr12:122184800-122208000	Weak transcription	Colonic Mucosa	Colon
4	chr12:122187000-122207600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:122187000-122208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122187200-122205600	Weak transcription	Fetal Lung	lung
7	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:122188400-122205600	Weak transcription	Aorta	Aorta
10	chr12:122188400-122207400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:122188800-122205600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122188800-122205600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:122189200-122210800	Weak transcription	GM12878-XiMat	blood
14	chr12:122189200-122211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:122190200-122205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
17	chr12:122190800-122203800	Weak transcription	HepG2	liver
18	chr12:122192400-122204000	Weak transcription	Stomach Mucosa	stomach
19	chr12:122192800-122204600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:122192800-122205400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:122193000-122207600	Weak transcription	Liver	Liver
22	chr12:122193000-122211000	Weak transcription	Pancreas	Pancrea
23	chr12:122193200-122211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:122193600-122206400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:122194000-122204000	Weak transcription	Fetal Brain Female	brain
26	chr12:122195000-122204600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:122195000-122211000	Weak transcription	Fetal Thymus	thymus
28	chr12:122195000-122211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:122195000-122211200	Weak transcription	Thymus	Thymus
30	chr12:122195000-122212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:122195000-122213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:122196200-122203800	Weak transcription	Primary T cells from cord blood	blood
33	chr12:122196200-122211000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:122197600-122205800	Weak transcription	Gastric	stomach
35	chr12:122200200-122204200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:122200200-122205600	Weak transcription	Spleen	Spleen
37	chr12:122200400-122204200	Strong transcription	Lung	lung
38	chr12:122200600-122204600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:122200600-122204800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:122200600-122205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:122200600-122211000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:122200800-122203800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:122200800-122204000	Weak transcription	Psoas Muscle	Psoas
44	chr12:122200800-122204200	Strong transcription	Fetal Stomach	stomach
45	chr12:122200800-122204800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:122200800-122205400	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:122200800-122205600	Weak transcription	Placenta	Placenta
48	chr12:122200800-122205800	Weak transcription	Right Atrium	heart
49	chr12:122200800-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:122201000-122204000	Weak transcription	Right Ventricle	heart

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