Variant report

Variant	esv3331230
Chromosome Location	chr12:122237769-122239717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:740)
CpG islands
(count:367)
Chromatin interactive
region (count:54)
LncRNA
region (count:48)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr12:122238967-122238970	K562	blood:	n/a	n/a
3	ATF2	chr12:122237639-122238405	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr12:122237679-122238267	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:122238747-122241161	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:122238772-122239245	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:122239528-122241264	GM12878	blood:	n/a	n/a
8	ATF2	chr12:122239216-122240166	GM12878	blood:	n/a	n/a
9	ATF2	chr12:122237611-122238226	GM12878	blood:	n/a	n/a
10	ATF3	chr12:122237819-122238308	K562	blood:	n/a	chr12:122238273-122238282 chr12:122238063-122238072
11	ATF3	chr12:122238283-122238602	K562	blood:	n/a	n/a
12	ATF3	chr12:122237843-122238214	K562	blood:	n/a	chr12:122238063-122238072
13	ATF3	chr12:122239180-122239848	A549	lung:	n/a	n/a
14	BACH1	chr12:122237854-122238108	K562	blood:	n/a	n/a
15	BACH1	chr12:122238809-122239174	K562	blood:	n/a	n/a
16	BACH1	chr12:122237852-122239385	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr12:122237757-122238116	GM12878	blood:	n/a	n/a
18	BCL3	chr12:122237201-122238476	A549	lung:	n/a	chr12:122238343-122238356 chr12:122238272-122238281 chr12:122238339-122238352 chr12:122237586-122237599
19	BCL3	chr12:122238787-122241287	A549	lung:	n/a	chr12:122239344-122239357 chr12:122238974-122238987
20	BCL3	chr12:122237906-122238615	GM12878	blood:	n/a	chr12:122238343-122238356 chr12:122238272-122238281 chr12:122238339-122238352
21	BCL3	chr12:122238666-122240120	A549	lung:	n/a	chr12:122239344-122239357 chr12:122238974-122238987
22	BCL3	chr12:122237603-122238227	A549	lung:	n/a	n/a
23	BCLAF1	chr12:122238757-122240393	GM12878	blood:	n/a	chr12:122239344-122239357 chr12:122238974-122238987
24	BCLAF1	chr12:122239437-122241389	GM12878	blood:	n/a	n/a
25	BCLAF1	chr12:122237658-122238909	K562	blood:	n/a	chr12:122238343-122238356 chr12:122238272-122238281 chr12:122238339-122238352
26	BCLAF1	chr12:122237677-122239304	GM12878	blood:	n/a	chr12:122238343-122238356 chr12:122238272-122238281 chr12:122238339-122238352 chr12:122238974-122238987
27	BHLHE40	chr12:122239005-122239077	K562	blood:	n/a	n/a
28	BHLHE40	chr12:122237818-122238190	GM12878	blood:	n/a	chr12:122238030-122238046
29	BHLHE40	chr12:122237201-122238161	K562	blood:	n/a	chr12:122238030-122238046 chr12:122237619-122237635
30	BHLHE40	chr12:122239439-122240031	GM12878	blood:	n/a	n/a
31	BRCA1	chr12:122238193-122238370	HepG2	liver:	n/a	n/a
32	BRCA1	chr12:122237871-122238266	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr12:122239681-122240058	GM12878	blood:	n/a	n/a
34	BRCA1	chr12:122239400-122239406	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr12:122238858-122239019	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr12:122237028-122238248	K562	blood:	n/a	n/a
37	CCNT2	chr12:122237311-122239386	K562	blood:	n/a	chr12:122237632-122237641 chr12:122238541-122238550 chr12:122237637-122237646
38	CEBPB	chr12:122237947-122238148	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr12:122239457-122241334	GM12878	blood:	n/a	n/a
40	CEBPD	chr12:122237243-122238427	K562	blood:	n/a	n/a
41	CEBPD	chr12:122237688-122238528	HepG2	liver:	n/a	n/a
42	CEBPD	chr12:122237934-122238254	HepG2	liver:	n/a	n/a
43	CHD1	chr12:122237832-122241481	H1-hESC	embryonic stem cell:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
44	CHD1	chr12:122237651-122241677	IMR90	lung:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
45	CHD1	chr12:122237669-122241524	GM12878	blood:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
46	CHD2	chr12:122239608-122240169	H1-hESC	embryonic stem cell:	n/a	chr12:122239946-122239956
47	CHD2	chr12:122237352-122240098	GM12878	blood:	n/a	chr12:122239946-122239956 chr12:122238495-122238505
48	CHD2	chr12:122236875-122238487	K562	blood:	n/a	n/a
49	CHD2	chr12:122238828-122238913	HepG2	liver:	n/a	n/a
50	CHD2	chr12:122237371-122240092	Hela-S3	cervix:	n/a	chr12:122239946-122239956 chr12:122238495-122238505

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122238218-122238268	HEEpiC	esophagus:	n/a
2	chr12:122238218-122238268	HEEpiC	esophagus:	n/a
3	chr12:122238038-122238088	AG09309	skin:	n/a
4	chr12:122239014-122239064	Hela-S3	cervix:	n/a
5	chr12:122238038-122238088	Hepatocyte	liver:	n/a
6	chr12:122238836-122238886	NT2-D1	testis:	n/a
7	chr12:122238038-122238088	SAEC	small airway:	n/a
8	chr12:122238218-122238268	NB4	blood:	n/a
9	chr12:122238672-122238722	RPTEC	kidney:	n/a
10	chr12:122239035-122239085	NT2-D1	testis:	n/a
11	chr12:122239014-122239064	SK-N-MC	brain:	n/a
12	chr12:122239014-122239064	SAEC	small airway:	n/a
13	chr12:122239035-122239085	HEK293	kidney:	embryo
14	chr12:122239035-122239085	Jurkat	blood:	n/a
15	chr12:122239035-122239085	Caco-2	colon:	n/a
16	chr12:122239014-122239064	ProgFib	skin:	n/a
17	chr12:122238672-122238722	SAEC	small airway:	n/a
18	chr12:122239035-122239085	HCPEpiC	choroid plexus:	n/a
19	chr12:122238672-122238722	NT2-D1	testis:	n/a
20	chr12:122239035-122239085	T-47D	breast:	n/a
21	chr12:122238672-122238722	AG04449	skin:	fetal
22	chr12:122238836-122238886	HCF	heart:	n/a
23	chr12:122238218-122238268	GM06990	blood:	n/a
24	chr12:122238836-122238886	ovcar-3	ovarian:	n/a
25	chr12:122239014-122239064	GM12878	blood:	n/a
26	chr12:122238218-122238268	NHBE	bronchial:	n/a
27	chr12:122238672-122238722	Caco-2	colon:	n/a
28	chr12:122238038-122238088	HepG2	liver:	n/a
29	chr12:122239014-122239064	U87	brain:	n/a
30	chr12:122239014-122239064	NH-A	brain:	n/a
31	chr12:122238672-122238722	SK-N-SH_RA	brain:	n/a
32	chr12:122238836-122238886	GM12878	blood:	n/a
33	chr12:122238218-122238268	GM12891	blood:	n/a
34	chr12:122238672-122238722	U87	brain:	n/a
35	chr12:122239035-122239085	HCM	heart:	n/a
36	chr12:122238836-122238886	HL-60	blood:	n/a
37	chr12:122238038-122238088	SKMC	muscle:	n/a
38	chr12:122238672-122238722	MCF-7	breast:	n/a
39	chr12:122238672-122238722	H1-hESC	embryonic stem cell:	embryo
40	chr12:122238218-122238268	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:122238218-122238268	T-47D	breast:	n/a
42	chr12:122238672-122238722	HAEpiC	amniotic membrane:	n/a
43	chr12:122238836-122238886	AoSMC	blood vessel:	n/a
44	chr12:122239035-122239085	ovcar-3	ovarian:	n/a
45	chr12:122238218-122238268	GM19239	blood:	n/a
46	chr12:122238218-122238268	U87	brain:	n/a
47	chr12:122239014-122239064	HEK293	kidney:	embryo
48	chr12:122238038-122238088	H1-hESC	embryonic stem cell:	embryo
49	chr12:122239035-122239085	AG09319	gingival:	n/a
50	chr12:122239014-122239064	BJ	skin:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
2	chr12:122237927..122238753-chr12:122985007..122985749,2	Hela-S3	cervix:
3	chr12:122237535..122239175-chr12:122615954..122617703,2	MCF-7	breast:
4	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
5	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
6	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
7	chr12:122239660..122241230-chr12:122355073..122357147,2	MCF-7	breast:
8	chr12:122238420..122240403-chr5:140026745..140028353,2	MCF-7	breast:
9	chr12:122186440..122186968-chr12:122237161..122237850,2	MCF-7	breast:
10	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
11	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
12	chr12:122239049..122240564-chr12:122299953..122302949,2	K562	blood:
13	chr12:122235746..122237932-chr12:122463152..122466660,3	K562	blood:
14	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
15	chr12:122236992..122238955-chr17:57923665..57925298,2	MCF-7	breast:
16	chr12:122063273..122066310-chr12:122238266..122240909,4	MCF-7	breast:
17	chr12:122063594..122065295-chr12:122238095..122240834,2	K562	blood:
18	chr12:122237414..122239746-chr17:48943458..48945237,2	MCF-7	breast:
19	chr12:122236965..122238991-chr12:122683290..122686252,2	K562	blood:
20	chr12:121837219..121839609-chr12:122238728..122241051,2	MCF-7	breast:
21	chr12:122235040..122237798-chr4:15655451..15658367,2	MCF-7	breast:
22	chr12:122238079..122240131-chr17:59487111..59490038,2	MCF-7	breast:
23	chr12:122237008..122237974-chr12:122249958..122250519,2	MCF-7	breast:
24	chr11:118965715..118967362-chr12:122238172..122240482,2	MCF-7	breast:
25	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
26	chr1:109742058..109743867-chr12:122238277..122239989,2	MCF-7	breast:
27	chr12:122238851..122241051-chr8:145148871..145151481,2	MCF-7	breast:
28	chr12:122237205..122238947-chr12:122709096..122710729,2	K562	blood:
29	chr12:122237355..122238983-chr20:49411409..49413724,2	MCF-7	breast:
30	chr1:180122867..180124515-chr12:122237701..122240027,2	MCF-7	breast:
31	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
32	chr12:122237348..122239673-chr20:55840196..55842949,3	MCF-7	breast:
33	chr12:122237524..122241121-chr12:122501436..122503777,3	K562	blood:
34	chr12:122237910..122239511-chrX:153599147..153600887,2	MCF-7	breast:
35	chr12:122237028..122239073-chr12:122370482..122372481,2	K562	blood:
36	chr12:121974810..121976577-chr12:122237441..122239422,3	MCF-7	breast:
37	chr12:122188399..122190349-chr12:122238122..122239651,2	K562	blood:
38	chr12:122238900..122240438-chr6:136610251..136612271,2	MCF-7	breast:
39	chr12:122237788..122238486-chr2:172290216..172290849,2	NB4	blood:
40	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
41	chr12:122238562..122240078-chr20:52823765..52826004,2	MCF-7	breast:
42	chr12:122239058..122240920-chr2:174827719..174830077,2	MCF-7	breast:
43	chr12:122237332..122242839-chr17:57920693..57925352,4	MCF-7	breast:
44	chr12:122237269..122237964-chr17:47268972..47269796,2	Hela-S3	cervix:
45	chr12:122237524..122241320-chr12:122500575..122503777,5	K562	blood:
46	chr11:45928634..45930948-chr12:122237013..122238884,2	MCF-7	breast:
47	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
48	chr12:122235892..122238477-chr2:235091344..235092959,2	MCF-7	breast:
49	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
50	chr12:122239215..122242374-chr17:57923941..57927406,3	MCF-7	breast:

(count:48 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031455
2	lnc-RHOF-1	chr12:122239613-122240510	ENSG00000212694.4
3	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031455
4	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031450
5	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
6	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
7	lnc-RHOF-1	chr12:122237753-122238382	NONHSAT031456
8	lnc-RHOF-1	chr12:122239206-122239348	ENSG00000212694.4
9	lnc-RHOF-1	chr12:122237753-122238064	NONHSAT031454
10	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
11	lnc-RHOF-1	chr12:122237662-122237862	ENSG00000212694.4
12	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031457
13	lnc-RHOF-1	chr12:122238754-122238913	ENSG00000212694.4
14	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031457
15	lnc-RHOF-1	chr12:122237753-122237864	NONHSAT031461
16	lnc-RHOF-1	chr12:122237755-122237862	ENSG00000212694.4
17	lnc-RHOF-1	chr12:122237643-122237862	NONHSAT031467
18	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031452
19	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
20	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031446
21	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
22	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031452
23	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
24	lnc-RHOF-1	chr12:122239478-122239514	ENSG00000212694.4
25	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
26	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
27	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031461
28	lnc-RHOF-1	chr12:122239613-122239714	NONHSAT031468
29	lnc-RHOF-1	chr12:122237645-122237862	NONHSAT031468
30	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
31	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
32	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
33	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
34	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
35	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
36	lnc-RHOF-1	chr12:122237753-122237862	ENSG00000212694.4
37	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031458
38	lnc-RHOF-1	chr12:122239613-122240308	ENSG00000212694.4
39	lnc-RHOF-1	chr12:122239613-122240053	NONHSAT031450
40	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
41	lnc-RHOF-1	chr12:122237753-122237862	NONHSAT031446
42	lnc-RHOF-1	chr12:122239613-122239891	NONHSAT031458
43	lnc-SETD1B-3	chr12:122237749-122237862	NONHSAT031445
44	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
45	lnc-RHOF-1	chr12:122239613-122240060	NONHSAT031467
46	lnc-RHOF-1	chr12:122235738-122239714	NONHSAT031462
47	lnc-RHOF-1	chr12:122239613-122239714	ENSG00000212694.4
48	lnc-SETD1B-2	chr12:122239669-122239878	ENSG00000272849.1

No data

Variant related genes	Relation type
SETD1B	TF binding region
ENSG00000212694	TF binding region
RHOF	TF binding region
SETD1B	CpG island
ENSG00000212694	CpG island
RHOF	CpG island
ENSG00000203813	chromatin interactions
ENSG00000256742	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000255989	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000158104	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000158113	chromatin interactions
ENSG00000116299	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000256546	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000179091	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000118564	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000234776	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000170633	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542787084	chr12:122237794-122237795	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
2	rs34209227	chr12:122237886-122237887	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
3	rs183007227	chr12:122237887-122237888	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
4	rs375961075	chr12:122237904-122237905	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
5	rs561208798	chr12:122237991-122237992	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
6	rs551165707	chr12:122237992-122237993	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
7	rs571351214	chr12:122237999-122238000	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
8	rs368792239	chr12:122238003-122238004	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
9	rs61954265	chr12:122238007-122238008	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
10	rs532345655	chr12:122238014-122238015	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
11	rs544317547	chr12:122238024-122238025	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
12	rs562619121	chr12:122238036-122238037	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
13	rs187333561	chr12:122238068-122238069	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	Overlapped CNVs	n/a
14	rs531114073	chr12:122238111-122238112	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
15	rs566907657	chr12:122238113-122238114	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
16	rs527989930	chr12:122238134-122238135	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
17	rs151237143	chr12:122238147-122238148	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
18	rs571278466	chr12:122238184-122238185	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a
19	rs140394366	chr12:122238278-122238279	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
20	rs1795966	chr12:122238300-122238301	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs568931523	chr12:122238366-122238367	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
22	rs1667578	chr12:122238380-122238381	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs554758874	chr12:122238405-122238406	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	33 gene(s)	Overlapped CNVs	n/a
24	rs572906817	chr12:122238467-122238468	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
25	rs540160385	chr12:122238477-122238478	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
26	rs558398323	chr12:122238482-122238483	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
27	rs576861924	chr12:122238523-122238524	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
28	rs544195170	chr12:122238526-122238527	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
29	rs562879310	chr12:122238689-122238690	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
30	rs551242740	chr12:122238719-122238720	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
31	rs530218298	chr12:122238750-122238751	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
32	rs541908015	chr12:122238760-122238761	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
33	rs564928787	chr12:122238795-122238796	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
34	rs192110769	chr12:122238802-122238803	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
35	rs527847037	chr12:122238840-122238841	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
36	rs372103062	chr12:122238857-122238858	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
37	rs549146630	chr12:122238858-122238859	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
38	rs150368731	chr12:122238879-122238880	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
39	rs550586612	chr12:122239018-122239019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
40	rs183144890	chr12:122239056-122239057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
41	rs1667579	chr12:122239074-122239075	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs547952239	chr12:122239095-122239096	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
43	rs566676182	chr12:122239118-122239119	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
44	rs533725453	chr12:122239123-122239124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
45	rs558468204	chr12:122239140-122239141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
46	rs78534688	chr12:122239144-122239145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
47	rs537703918	chr12:122239185-122239186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
48	rs138129637	chr12:122239210-122239211	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
49	rs538274524	chr12:122239214-122239215	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
50	rs375381275	chr12:122239215-122239216	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122232800-122238000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:122234400-122238000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr12:122235000-122238000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122235000-122238000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr12:122235200-122245400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:122235400-122237800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:122235400-122239800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr12:122235600-122238200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:122235800-122239400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr12:122236000-122237800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
11	chr12:122236000-122238000	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr12:122236400-122238000	Flanking Active TSS	HMEC	breast
13	chr12:122236800-122238400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:122236800-122245000	Active TSS	Aorta	Aorta
15	chr12:122237000-122237800	Weak transcription	Ovary	ovary
16	chr12:122237000-122238000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:122237000-122238000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:122237000-122238000	Active TSS	Fetal Kidney	kidney
19	chr12:122237000-122238400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr12:122237000-122239400	Active TSS	HSMMtube	muscle
21	chr12:122237000-122240000	Active TSS	Gastric	stomach
22	chr12:122237000-122240800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr12:122237000-122243800	Active TSS	Psoas Muscle	Psoas
24	chr12:122237200-122237800	Enhancers	Brain Substantia Nigra	brain
25	chr12:122237200-122238000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:122237200-122238200	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr12:122237200-122238400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:122237200-122239600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr12:122237200-122239600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:122237200-122241600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:122237200-122243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:122237200-122243800	Active TSS	Brain Angular Gyrus	brain
33	chr12:122237200-122243800	Active TSS	Esophagus	oesophagus
34	chr12:122237200-122243800	Active TSS	Left Ventricle	heart
35	chr12:122237200-122243800	Active TSS	Right Ventricle	heart
36	chr12:122237200-122243800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr12:122237200-122244600	Active TSS	Small Intestine	intestine
38	chr12:122237400-122237800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122237400-122237800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:122237400-122237800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr12:122237400-122237800	Transcr. at gene 5' and 3'	Right Atrium	heart
42	chr12:122237400-122238000	Enhancers	Fetal Heart	heart
43	chr12:122237400-122238200	Active TSS	Brain Germinal Matrix	brain
44	chr12:122237400-122239000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:122237400-122239000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:122237400-122239000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:122237400-122239000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:122237400-122239000	Active TSS	Placenta	Placenta
49	chr12:122237400-122239000	Active TSS	HepG2	liver
50	chr12:122237400-122239000	Active TSS	NHDF-Ad	bronchial

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