Variant report

Variant	nsv911310
Chromosome Location	chr19:19753882-19784891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2165)
CpG islands
(count:2871)
Chromatin interactive
region (count:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2165 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:19754790-19754976	K562	blood:	n/a	n/a
2	ARID3A	chr19:19779132-19779853	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:19774393-19774684	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:19774939-19775152	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:19774570-19775126	K562	blood:	n/a	n/a
6	ARID3A	chr19:19779417-19779631	K562	blood:	n/a	n/a
7	ATF2	chr19:19774403-19774888	GM12878	blood:	n/a	n/a
8	ATF2	chr19:19772281-19773158	GM12878	blood:	n/a	chr19:19772686-19772697
9	ATF2	chr19:19780710-19781019	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:19774461-19774897	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr19:19774452-19774850	GM12878	blood:	n/a	n/a
12	ATF2	chr19:19772464-19772970	GM12878	blood:	n/a	chr19:19772686-19772697
13	ATF2	chr19:19754622-19754928	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr19:19779453-19779906	GM12878	blood:	n/a	n/a
15	ATF2	chr19:19778911-19779446	GM12878	blood:	n/a	n/a
16	ATF2	chr19:19754076-19754722	GM12878	blood:	n/a	n/a
17	ATF2	chr19:19773648-19774134	GM12878	blood:	n/a	n/a
18	BACH1	chr19:19754584-19754872	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:19773895-19773967	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:19754540-19754863	K562	blood:	n/a	n/a
21	BCL3	chr19:19754298-19754981	GM12878	blood:	n/a	chr19:19754387-19754400
22	BCLAF1	chr19:19772371-19773166	GM12878	blood:	n/a	n/a
23	BCLAF1	chr19:19774092-19774891	GM12878	blood:	n/a	chr19:19774531-19774540 chr19:19774494-19774503 chr19:19774707-19774716
24	BCLAF1	chr19:19778811-19780035	GM12878	blood:	n/a	chr19:19779998-19780011 chr19:19779557-19779565 chr19:19779994-19780007 chr19:19779626-19779635
25	BCLAF1	chr19:19753880-19755055	GM12878	blood:	n/a	chr19:19754387-19754400
26	BCLAF1	chr19:19773791-19774868	GM12878	blood:	n/a	chr19:19774531-19774540 chr19:19774494-19774503 chr19:19774707-19774716
27	BCLAF1	chr19:19779447-19779937	GM12878	blood:	n/a	chr19:19779557-19779565 chr19:19779626-19779635
28	BHLHE40	chr19:19754797-19754950	K562	blood:	n/a	n/a
29	BHLHE40	chr19:19779281-19779835	K562	blood:	n/a	n/a
30	BHLHE40	chr19:19778942-19779864	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:19772514-19773180	GM12878	blood:	n/a	n/a
32	BHLHE40	chr19:19773604-19773616	GM12878	blood:	n/a	n/a
33	BHLHE40	chr19:19753946-19754997	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:19779048-19779848	HepG2	liver:	n/a	n/a
35	BHLHE40	chr19:19773790-19775110	K562	blood:	n/a	n/a
36	BHLHE40	chr19:19773994-19774808	GM12878	blood:	n/a	n/a
37	BRCA1	chr19:19772509-19772806	GM12878	blood:	n/a	n/a
38	BRCA1	chr19:19754748-19754888	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr19:19780074-19780129	GM12878	blood:	n/a	n/a
40	BRCA1	chr19:19754659-19754855	HepG2	liver:	n/a	n/a
41	BRCA1	chr19:19774243-19774859	Hela-S3	cervix:	n/a	chr19:19774587-19774594
42	BRCA1	chr19:19773268-19773418	GM12878	blood:	n/a	n/a
43	BRCA1	chr19:19754655-19755006	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr19:19779363-19779848	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr19:19774554-19774808	HepG2	liver:	n/a	chr19:19774587-19774594
46	BRCA1	chr19:19779159-19779710	HepG2	liver:	n/a	n/a
47	CBX3	chr19:19779069-19779710	K562	blood:	n/a	n/a
48	CBX3	chr19:19774390-19775224	K562	blood:	n/a	n/a
49	CBX3	chr19:19779599-19779849	K562	blood:	n/a	n/a
50	CBX3	chr19:19773713-19774148	K562	blood:	n/a	n/a

(count:2871 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19774878-19774928	Hela-S3	cervix:	n/a
2	chr19:19754582-19754632	AG09319	gingival:	n/a
3	chr19:19774945-19774995	SAEC	small airway:	n/a
4	chr19:19754454-19754504	HEK293	kidney:	embryo
5	chr19:19774878-19774928	Hela-S3	cervix:	n/a
6	chr19:19754582-19754632	AG09319	gingival:	n/a
7	chr19:19774945-19774995	SAEC	small airway:	n/a
8	chr19:19754454-19754504	HEK293	kidney:	embryo
9	chr19:19757457-19757507	HAEpiC	amniotic membrane:	n/a
10	chr19:19755321-19755371	HEEpiC	esophagus:	n/a
11	chr19:19764795-19764845	AG09319	gingival:	n/a
12	chr19:19770860-19770910	Caco-2	colon:	n/a
13	chr19:19763973-19764023	HL-60	blood:	n/a
14	chr19:19779618-19779668	HEEpiC	esophagus:	n/a
15	chr19:19774628-19774678	U87	brain:	n/a
16	chr19:19754475-19754525	SKMC	muscle:	n/a
17	chr19:19754386-19754436	ovcar-3	ovarian:	n/a
18	chr19:19754812-19754862	LNCaP	prostate:	n/a
19	chr19:19774664-19774714	GM06990	blood:	n/a
20	chr19:19764795-19764845	Hela-S3	cervix:	n/a
21	chr19:19779560-19779610	Jurkat	blood:	n/a
22	chr19:19774878-19774928	IMR90	lung:	fetal
23	chr19:19774667-19774717	LNCaP	prostate:	n/a
24	chr19:19765944-19765994	GM12892	blood:	n/a
25	chr19:19754475-19754525	U87	brain:	n/a
26	chr19:19780136-19780186	HRPEpiC	eye:	n/a
27	chr19:19773992-19774042	SK-N-MC	brain:	n/a
28	chr19:19754301-19754351	ECC-1	luminal epithelium:	n/a
29	chr19:19774664-19774714	ovcar-3	ovarian:	n/a
30	chr19:19774554-19774604	BE2_C	brain:	n/a
31	chr19:19779623-19779673	HCT-116	colon:	n/a
32	chr19:19775680-19775730	ProgFib	skin:	n/a
33	chr19:19774664-19774714	HL-60	blood:	n/a
34	chr19:19774945-19774995	T-47D	breast:	n/a
35	chr19:19779231-19779281	K562	blood:	n/a
36	chr19:19770860-19770910	T-47D	breast:	n/a
37	chr19:19779231-19779281	HEK293	kidney:	embryo
38	chr19:19778986-19779036	LNCaP	prostate:	n/a
39	chr19:19779567-19779617	HL-60	blood:	n/a
40	chr19:19772686-19772736	ECC-1	luminal epithelium:	n/a
41	chr19:19780767-19780817	K562	blood:	n/a
42	chr19:19760711-19760761	SKMC	muscle:	n/a
43	chr19:19767731-19767781	K562	blood:	n/a
44	chr19:19774667-19774717	H1-hESC	embryonic stem cell:	embryo
45	chr19:19778594-19778644	NT2-D1	testis:	n/a
46	chr19:19755321-19755371	Caco-2	colon:	n/a
47	chr19:19754574-19754624	IMR90	lung:	fetal
48	chr19:19775680-19775730	HNPCEpiC	eye:	n/a
49	chr19:19754301-19754351	BJ	skin:	n/a
50	chr19:19774945-19774995	HUVEC	blood vessel:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:19649331..19652417-chr19:19771491..19776120,6	K562	blood:
2	chr19:19625322..19628012-chr19:19773852..19776193,2	K562	blood:
3	chr19:19760396..19761939-chr19:19764664..19766926,2	MCF-7	breast:
4	chr19:19752883..19756107-chr19:19759212..19764518,8	MCF-7	breast:
5	chr19:19758273..19759976-chr19:19769882..19772025,2	K562	blood:
6	chr19:19752450..19756333-chr19:19763709..19769200,7	K562	blood:
7	chr19:19751893..19756920-chr19:19758472..19762276,9	K562	blood:
8	chr19:19651192..19652936-chr19:19774066..19776214,2	MCF-7	breast:
9	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
10	chr19:19779981..19782160-chr19:19842451..19845691,3	MCF-7	breast:
11	chr19:19748686..19750462-chr19:19772850..19775987,3	K562	blood:
12	chr19:19753683..19755957-chr19:19767700..19769779,2	K562	blood:
13	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
14	chr19:19727841..19730107-chr19:19763060..19764845,2	MCF-7	breast:
15	chr19:19761051..19765216-chr19:19766866..19770824,5	K562	blood:
16	chr19:19779650..19782100-chr19:19976513..19978467,2	MCF-7	breast:
17	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
18	chr19:19784664..19786349-chr19:19788589..19791062,2	K562	blood:
19	chr1:28974889..28975516-chr19:19773844..19774668,2	Hela-S3	cervix:
20	chr19:19752450..19756333-chr19:19763709..19769200,7	K562	blood:
21	chr19:19757212..19759308-chr19:19762231..19764306,2	K562	blood:
22	chr19:19758273..19759976-chr19:19769882..19772025,2	K562	blood:
23	chr19:19729417..19731495-chr19:19772370..19774542,2	MCF-7	breast:
24	chr19:19702026..19704512-chr19:19777801..19779336,2	MCF-7	breast:
25	chr19:19758424..19760184-chr19:19766453..19768345,2	MCF-7	breast:
26	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:
27	chr19:19767560..19771032-chr19:19771876..19774701,8	MCF-7	breast:
28	chr19:19767560..19771032-chr19:19771876..19774701,8	MCF-7	breast:
29	chr19:19779640..19782271-chr19:19782688..19785412,3	MCF-7	breast:
30	chr19:19780471..19782017-chr19:19786498..19789488,2	K562	blood:
31	chr19:19779580..19781549-chr19:19783005..19784899,2	K562	blood:
32	chr19:19639119..19641341-chr19:19760899..19763693,2	K562	blood:
33	chr19:19773987..19774730-chr6:26199521..26200292,2	Hela-S3	cervix:
34	chr19:19746005..19749139-chr19:19754452..19756751,3	K562	blood:
35	chr19:19751259..19757786-chr19:19771999..19776232,8	K562	blood:
36	chr19:19728090..19730297-chr19:19774010..19775598,2	K562	blood:
37	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
38	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
39	chr19:19753961..19756109-chr19:19770427..19773007,2	MCF-7	breast:
40	chr19:19729600..19731507-chr19:19752222..19754293,3	K562	blood:
41	chr19:19755704..19761642-chr19:19771468..19774473,6	MCF-7	breast:
42	chr19:19739216..19741548-chr19:19773041..19775101,2	K562	blood:
43	chr19:19753162..19754752-chr19:19769276..19770855,2	MCF-7	breast:
44	chr19:19635157..19637400-chr19:19754505..19756149,2	K562	blood:
45	chr19:19751259..19758144-chr19:19770384..19776332,14	K562	blood:
46	chr19:19752144..19756505-chr19:19773208..19775858,7	MCF-7	breast:
47	chr19:19755704..19761642-chr19:19771468..19774473,6	MCF-7	breast:
48	chr19:19757747..19759331-chr19:19762568..19765721,3	K562	blood:
49	chr19:19779580..19781317-chr19:19788331..19791225,2	MCF-7	breast:
50	chr19:19772600..19774395-chr19:19886060..19888388,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF101	TF binding region
GMIP	TF binding region
ATP13A1	TF binding region
ZNF101	CpG island
GMIP	CpG island
ATP13A1	CpG island
ENSG00000270103	chromatin interactions
ENSG00000267419	chromatin interactions
ENSG00000089639	chromatin interactions
ENSG00000167491	chromatin interactions
ENSG00000186010	chromatin interactions
ENSG00000160161	chromatin interactions
ENSG00000065548	chromatin interactions
ENSG00000266904	chromatin interactions
ENSG00000105708	chromatin interactions
ENSG00000256771	chromatin interactions
ENSG00000064547	chromatin interactions
ENSG00000178093	chromatin interactions
ENSG00000105726	chromatin interactions
ENSG00000250067	chromatin interactions
ENSG00000181896	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000258674	chromatin interactions
ENSG00000105717	chromatin interactions

Extended variants
information (count: 1436 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3794995	chr19:19753882-19753883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs538818942	chr19:19753915-19753916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs558319751	chr19:19753925-19753926	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs538934952	chr19:19753964-19753965	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs371673166	chr19:19753987-19753988	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs540706313	chr19:19753994-19753995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs560494357	chr19:19754013-19754014	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs561217742	chr19:19754034-19754035	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs372992130	chr19:19754084-19754085	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs530126541	chr19:19754125-19754126	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs563195823	chr19:19754127-19754128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs79244208	chr19:19754144-19754145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs4808975	chr19:19754149-19754150	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565108992	chr19:19754154-19754155	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs527399732	chr19:19754189-19754190	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs570153476	chr19:19754235-19754236	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs547046419	chr19:19754256-19754257	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs367960480	chr19:19754267-19754268	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs374492898	chr19:19754279-19754280	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs376990815	chr19:19754294-19754295	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs149781643	chr19:19754324-19754325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs369733572	chr19:19754356-19754357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs549850075	chr19:19754369-19754370	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs569919719	chr19:19754375-19754376	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs113682008	chr19:19754440-19754441	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs147632745	chr19:19754482-19754483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs181793700	chr19:19754489-19754490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs142294717	chr19:19754494-19754495	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs534300509	chr19:19754529-19754530	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs187381679	chr19:19754575-19754576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs145908681	chr19:19754628-19754629	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs10415876	chr19:19754806-19754807	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs527908230	chr19:19754824-19754825	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs60610603	chr19:19754826-19754827	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556604743	chr19:19754845-19754846	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs576693156	chr19:19754849-19754850	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs545259028	chr19:19754897-19754898	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs138835674	chr19:19754919-19754920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs192106650	chr19:19754921-19754922	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs3794996	chr19:19754942-19754943	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561026997	chr19:19754954-19754955	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs529691520	chr19:19754970-19754971	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs554846343	chr19:19755063-19755064	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs549729980	chr19:19755069-19755070	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs569523573	chr19:19755091-19755092	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs532463612	chr19:19755099-19755100	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs552463336	chr19:19755134-19755135	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs565887434	chr19:19755146-19755147	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs534810509	chr19:19755147-19755148	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs7257247	chr19:19755217-19755218	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2175 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19752600-19754400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:19753000-19754000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr19:19753000-19754200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:19753000-19754400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:19753200-19754000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:19753200-19754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:19753200-19754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:19753200-19754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:19753200-19754000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:19753200-19754000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr19:19753200-19754000	Flanking Active TSS	Dnd41	blood
12	chr19:19753200-19754200	Flanking Active TSS	Colonic Mucosa	Colon
13	chr19:19753200-19754400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:19753200-19754600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:19753200-19754600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:19753200-19754600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:19753200-19754600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:19753200-19754600	Active TSS	NHEK	skin
19	chr19:19753200-19754800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr19:19753200-19754800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:19753200-19754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:19753200-19754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:19753200-19754800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:19753200-19754800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr19:19753200-19754800	Active TSS	Esophagus	oesophagus
26	chr19:19753200-19754800	Active TSS	Rectal Smooth Muscle	rectum
27	chr19:19753200-19755000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr19:19753400-19754000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:19753400-19754000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr19:19753400-19754000	Flanking Active TSS	Pancreas	Pancrea
31	chr19:19753400-19754400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr19:19753400-19754400	Active TSS	Small Intestine	intestine
33	chr19:19753400-19754400	Active TSS	Spleen	Spleen
34	chr19:19753400-19754400	Active TSS	NHLF	lung
35	chr19:19753400-19754600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:19753400-19754600	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr19:19753400-19754600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr19:19753400-19754600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:19753400-19754600	Active TSS	GM12878-XiMat	blood
40	chr19:19753400-19754600	Active TSS	HSMM	muscle
41	chr19:19753400-19754600	Active TSS	NHDF-Ad	bronchial
42	chr19:19753400-19754600	Active TSS	Osteobl	bone
43	chr19:19753400-19754800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr19:19753400-19754800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr19:19753400-19754800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr19:19753400-19754800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:19753400-19754800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:19753400-19754800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr19:19753400-19754800	Flanking Active TSS	Placenta	Placenta
50	chr19:19753400-19754800	Active TSS	Sigmoid Colon	Sigmoid Colon

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