Variant report

Variant	esv3405086
Chromosome Location	chr8:124285396-124287944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:124287017-124287311	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:124286483-124286621	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:124287068-124287133	K562	blood:	n/a	n/a
4	ATF2	chr8:124286273-124286627	GM12878	blood:	n/a	n/a
5	BACH1	chr8:124285829-124286737	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr8:124287400-124287480	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr8:124286770-124287516	GM12878	blood:	n/a	chr8:124287443-124287456 chr8:124287439-124287452 chr8:124287440-124287453 chr8:124286891-124286900 chr8:124287246-124287259
8	BCLAF1	chr8:124286308-124286715	GM12878	blood:	n/a	chr8:124286671-124286680 chr8:124286457-124286470 chr8:124286466-124286475
9	BCLAF1	chr8:124286238-124286786	K562	blood:	n/a	chr8:124286671-124286680 chr8:124286283-124286292 chr8:124286457-124286470 chr8:124286277-124286290 chr8:124286466-124286475
10	BHLHE40	chr8:124286293-124287529	HepG2	liver:	n/a	chr8:124287442-124287458 chr8:124286457-124286473 chr8:124286658-124286674 chr8:124286647-124286663 chr8:124287147-124287163 chr8:124286373-124286389
11	BHLHE40	chr8:124285894-124287715	K562	blood:	n/a	chr8:124287442-124287458 chr8:124286457-124286473 chr8:124286658-124286674 chr8:124286647-124286663 chr8:124286282-124286298 chr8:124286283-124286299 chr8:124286277-124286293 chr8:124287147-124287163 chr8:124286373-124286389
12	BHLHE40	chr8:124286302-124287775	GM12878	blood:	n/a	chr8:124287442-124287458 chr8:124286457-124286473 chr8:124286658-124286674 chr8:124286647-124286663 chr8:124287147-124287163 chr8:124286373-124286389
13	BRCA1	chr8:124286397-124287412	Hela-S3	cervix:	n/a	chr8:124286862-124286869
14	BRCA1	chr8:124286487-124286634	HepG2	liver:	n/a	n/a
15	BRCA1	chr8:124286914-124287019	HepG2	liver:	n/a	n/a
16	BRCA1	chr8:124287632-124287920	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr8:124287268-124287923	GM12878	blood:	n/a	n/a
18	BRCA1	chr8:124287704-124287905	HepG2	liver:	n/a	n/a
19	BRCA1	chr8:124285634-124286100	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr8:124286228-124287801	K562	blood:	n/a	n/a
21	CCNT2	chr8:124286196-124287665	K562	blood:	n/a	chr8:124287645-124287654 chr8:124287141-124287150 chr8:124286848-124286857 chr8:124286799-124286808
22	CEBPB	chr8:124286394-124287229	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr8:124286945-124287237	HepG2	liver:	n/a	n/a
24	CEBPD	chr8:124286601-124286834	HepG2	liver:	n/a	n/a
25	CEBPD	chr8:124286281-124286946	K562	blood:	n/a	n/a
26	CEBPD	chr8:124286324-124286822	HepG2	liver:	n/a	n/a
27	CEBPD	chr8:124287034-124287538	HepG2	liver:	n/a	n/a
28	CHD1	chr8:124285954-124286725	GM12878	blood:	n/a	chr8:124286333-124286343 chr8:124286441-124286451
29	CHD1	chr8:124287165-124287683	GM12878	blood:	n/a	n/a
30	CHD2	chr8:124286301-124287989	H1-hESC	embryonic stem cell:	n/a	chr8:124286846-124286856 chr8:124286333-124286343 chr8:124286441-124286451
31	CHD2	chr8:124286011-124288122	GM12878	blood:	n/a	chr8:124286846-124286856 chr8:124286333-124286343 chr8:124286441-124286451
32	CHD2	chr8:124286288-124287996	K562	blood:	n/a	chr8:124286846-124286856 chr8:124286333-124286343 chr8:124286441-124286451
33	CHD2	chr8:124285832-124287713	Hela-S3	cervix:	n/a	chr8:124286846-124286856 chr8:124286333-124286343 chr8:124286441-124286451
34	CHD2	chr8:124285878-124286065	K562	blood:	n/a	n/a
35	CHD2	chr8:124286194-124287997	HepG2	liver:	n/a	chr8:124286846-124286856 chr8:124286333-124286343 chr8:124286441-124286451
36	CREB1	chr8:124286856-124287404	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr8:124286272-124287590	A549	lung:	n/a	n/a
38	CREB1	chr8:124286936-124287354	ECC-1	luminal epithelium:	n/a	n/a
39	CTBP2	chr8:124285900-124287495	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:124287500-124287650	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr8:124286414-124286509	Hela-S3	cervix:	n/a	chr8:124286453-124286471 chr8:124286455-124286463 chr8:124286456-124286469
42	CTCF	chr8:124286380-124286530	GM12874	blood:	n/a	chr8:124286453-124286471 chr8:124286455-124286463 chr8:124286456-124286469
43	CTCF	chr8:124286339-124286538	ProgFib	skin:	n/a	chr8:124286453-124286471 chr8:124286455-124286463 chr8:124286456-124286469
44	CTCF	chr8:124285960-124286110	HAc	cerebellar:	n/a	chr8:124286033-124286046 chr8:124286031-124286049 chr8:124286020-124286033 chr8:124286033-124286046
45	CTCF	chr8:124287243-124287254	GM12891	blood:	n/a	n/a
46	CTCF	chr8:124286385-124286528	H1-hESC	embryonic stem cell:	n/a	chr8:124286453-124286471 chr8:124286455-124286463 chr8:124286456-124286469
47	CTCF	chr8:124285910-124286176	GM10248	blood:	n/a	chr8:124286033-124286046 chr8:124286031-124286049 chr8:124286020-124286033 chr8:124286033-124286046
48	CTCF	chr8:124285960-124286110	WERI-Rb-1	eye:	n/a	chr8:124286033-124286046 chr8:124286031-124286049 chr8:124286020-124286033 chr8:124286033-124286046
49	CTCF	chr8:124286410-124286541	K562	blood:	n/a	chr8:124286453-124286471 chr8:124286455-124286463 chr8:124286456-124286469
50	CTCF	chr8:124285959-124286095	H1-hESC	embryonic stem cell:	n/a	chr8:124286033-124286046 chr8:124286031-124286049 chr8:124286020-124286033 chr8:124286033-124286046

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124286513-124286563	HEK293	kidney:	embryo
2	chr8:124286513-124286563	HEK293	kidney:	embryo
3	chr8:124286482-124286532	AG04449	skin:	fetal
4	chr8:124287111-124287161	ECC-1	luminal epithelium:	n/a
5	chr8:124287276-124287326	A549	lung:	n/a
6	chr8:124286570-124286620	IMR90	lung:	fetal
7	chr8:124286895-124286945	PrEC	prostate:	n/a
8	chr8:124286895-124286945	HCF	heart:	n/a
9	chr8:124286482-124286532	BE2_C	brain:	n/a
10	chr8:124286746-124286796	IMR90	lung:	fetal
11	chr8:124287111-124287161	HAEpiC	amniotic membrane:	n/a
12	chr8:124287665-124287715	HepG2	liver:	n/a
13	chr8:124287665-124287715	SKMC	muscle:	n/a
14	chr8:124286895-124286945	T-47D	breast:	n/a
15	chr8:124286560-124286610	NB4	blood:	n/a
16	chr8:124286482-124286532	NT2-D1	testis:	n/a
17	chr8:124286570-124286620	ovcar-3	ovarian:	n/a
18	chr8:124286735-124286785	SK-N-SH	brain:	n/a
19	chr8:124286560-124286610	PrEC	prostate:	n/a
20	chr8:124286513-124286563	HCM	heart:	n/a
21	chr8:124286482-124286532	ECC-1	luminal epithelium:	n/a
22	chr8:124286570-124286620	SK-N-SH	brain:	n/a
23	chr8:124286746-124286796	ovcar-3	ovarian:	n/a
24	chr8:124287665-124287715	U87	brain:	n/a
25	chr8:124286895-124286945	HNPCEpiC	eye:	n/a
26	chr8:124287111-124287161	PFSK-1	brain:	n/a
27	chr8:124287111-124287161	SK-N-SH	brain:	n/a
28	chr8:124286746-124286796	H1-hESC	embryonic stem cell:	embryo
29	chr8:124286895-124286945	BJ	skin:	n/a
30	chr8:124286570-124286620	NHDF-neo	bronchial:	n/a
31	chr8:124286746-124286796	BJ	skin:	n/a
32	chr8:124286482-124286532	MCF-7	breast:	n/a
33	chr8:124286560-124286610	HL-60	blood:	n/a
34	chr8:124287111-124287161	AG10803	skin:	n/a
35	chr8:124287111-124287161	NB4	blood:	n/a
36	chr8:124287276-124287326	H1-hESC	embryonic stem cell:	embryo
37	chr8:124286482-124286532	ProgFib	skin:	n/a
38	chr8:124286513-124286563	GM12878	blood:	n/a
39	chr8:124287665-124287715	HIPEpiC	eye:	n/a
40	chr8:124287665-124287715	SK-N-MC	brain:	n/a
41	chr8:124286560-124286610	NT2-D1	testis:	n/a
42	chr8:124286513-124286563	ovcar-3	ovarian:	n/a
43	chr8:124286895-124286945	NHBE	bronchial:	n/a
44	chr8:124286560-124286610	AG10803	skin:	n/a
45	chr8:124287276-124287326	HCPEpiC	choroid plexus:	n/a
46	chr8:124286560-124286610	H1-hESC	embryonic stem cell:	embryo
47	chr8:124286482-124286532	Hepatocyte	liver:	n/a
48	chr8:124287111-124287161	HRCEpiC	kidney:	n/a
49	chr8:124286895-124286945	ProgFib	skin:	n/a
50	chr8:124286895-124286945	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124284678..124290463-chr8:124295890..124302199,8	K562	blood:
2	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
3	chr8:124283753..124285788-chr8:124751343..124753261,2	K562	blood:
4	chr8:124246568..124249527-chr8:124285493..124288576,4	K562	blood:
5	chr8:124192727..124195343-chr8:124286448..124288328,2	MCF-7	breast:
6	chr8:124283412..124285759-chr8:124407440..124409463,2	K562	blood:
7	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
8	chr8:124261353..124265873-chr8:124284184..124288485,10	K562	blood:
9	chr12:1799819..1800546-chr8:124286478..124287091,2	Hela-S3	cervix:
10	chr8:124194984..124197268-chr8:124286516..124288692,3	MCF-7	breast:
11	chr8:124283829..124288838-chr8:124426117..124430573,9	K562	blood:
12	chr8:124286589..124288147-chr8:124780495..124782975,2	K562	blood:
13	chr8:124287117..124289356-chr8:124428879..124431490,3	MCF-7	breast:
14	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:
15	chr8:124285971..124288537-chr8:124358544..124361089,3	MCF-7	breast:
16	chr8:124273325..124275716-chr8:124284911..124287516,3	K562	blood:
17	chr8:124264164..124266785-chr8:124286974..124288773,2	MCF-7	breast:
18	chr8:124083827..124086138-chr8:124286636..124288524,2	K562	blood:
19	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
20	chr8:124251855..124253716-chr8:124284789..124287618,4	MCF-7	breast:
21	chr8:124285038..124289042-chr8:124427512..124430569,10	MCF-7	breast:
22	chr8:124243496..124245966-chr8:124284944..124287102,2	MCF-7	breast:
23	chr8:124285744..124288739-chr8:124298222..124302489,4	K562	blood:
24	chr8:124273503..124275775-chr8:124284695..124287084,4	MCF-7	breast:
25	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
26	chr8:124185720..124188524-chr8:124283602..124285793,2	K562	blood:
27	chr8:124283849..124288367-chr8:124426037..124430184,7	K562	blood:
28	chr8:124283886..124287542-chr8:124381015..124385016,4	MCF-7	breast:
29	chr8:124051710..124054469-chr8:124285028..124288032,4	MCF-7	breast:
30	chr8:124213969..124215797-chr8:124285287..124287584,2	K562	blood:
31	chr8:124281990..124286115-chr8:124406680..124410809,6	MCF-7	breast:
32	chr8:124285519..124287863-chr8:124381287..124384269,2	K562	blood:
33	chr8:124251904..124255350-chr8:124283702..124287510,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZHX1-1	chr8:124285990-124286237	NONHSAT128534

Variant related genes	Relation type
ZHX1	TF binding region
ZHX1	CpG island
ENSG00000156795	chromatin interactions
ENSG00000006831	chromatin interactions
ENSG00000156787	chromatin interactions
ENSG00000243498	chromatin interactions
ENSG00000136986	chromatin interactions
ENSG00000253258	chromatin interactions
ENSG00000207704	chromatin interactions
ENSG00000222607	chromatin interactions
ENSG00000147689	chromatin interactions
ENSG00000221461	chromatin interactions
ENSG00000156802	chromatin interactions
ENSG00000253336	chromatin interactions
ENSG00000204949	chromatin interactions
ENSG00000176853	chromatin interactions
ENSG00000189376	chromatin interactions
ENSG00000165156	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549581950	chr8:124285432-124285433	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs374609167	chr8:124285460-124285461	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs117293766	chr8:124285476-124285477	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs147965452	chr8:124285491-124285492	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs558701435	chr8:124285550-124285551	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs375878390	chr8:124285555-124285556	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs77426820	chr8:124285571-124285572	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs534947565	chr8:124285635-124285636	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs375488719	chr8:124285654-124285655	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs141832160	chr8:124285688-124285689	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs145604761	chr8:124285741-124285742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs532987657	chr8:124285750-124285751	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs543915391	chr8:124285810-124285811	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs73703792	chr8:124285827-124285828	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116435144	chr8:124285930-124285931	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs545271743	chr8:124286047-124286048	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
17	rs565066102	chr8:124286064-124286065	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
18	rs527591835	chr8:124286076-124286077	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs547664639	chr8:124286082-124286083	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs371100255	chr8:124286098-124286099	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs529623716	chr8:124286175-124286176	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs549732298	chr8:124286189-124286190	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs569675688	chr8:124286206-124286207	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs538341220	chr8:124286209-124286210	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs552392428	chr8:124286291-124286292	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs35991083	chr8:124286310-124286311	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs542779378	chr8:124286350-124286351	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs147716517	chr8:124286370-124286371	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs554811441	chr8:124286407-124286408	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs550175387	chr8:124286412-124286413	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs563030055	chr8:124286523-124286524	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs112845368	chr8:124286527-124286528	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs537078911	chr8:124286601-124286602	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs557321120	chr8:124286662-124286663	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs577308817	chr8:124286700-124286701	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs373318069	chr8:124286810-124286811	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs546280379	chr8:124286835-124286836	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs565076374	chr8:124286857-124286858	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs73703793	chr8:124286912-124286913	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561062502	chr8:124286956-124286957	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs529976561	chr8:124287021-124287022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs190770385	chr8:124287032-124287033	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs563283925	chr8:124287086-124287087	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs532083352	chr8:124287120-124287121	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs114016579	chr8:124287149-124287150	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs565952642	chr8:124287155-124287156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs528697159	chr8:124287156-124287157	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs115183363	chr8:124287205-124287206	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs376361177	chr8:124287249-124287250	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs568707139	chr8:124287253-124287254	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124270600-124285400	Weak transcription	Lung	lung
2	chr8:124277400-124285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:124278400-124285400	Weak transcription	Placenta	Placenta
4	chr8:124283200-124287800	Active TSS	GM12878-XiMat	blood
5	chr8:124283200-124288000	Active TSS	K562	blood
6	chr8:124283600-124285800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:124283800-124285400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:124283800-124285600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:124284000-124285400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:124284000-124285400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:124284000-124285400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:124284000-124285400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr8:124284000-124285400	Flanking Active TSS	NHEK	skin
14	chr8:124284000-124285400	Flanking Active TSS	Osteobl	bone
15	chr8:124284000-124285600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:124284000-124285600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr8:124284000-124285600	Flanking Active TSS	Fetal Lung	lung
18	chr8:124284000-124285800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:124284000-124285800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:124284000-124285800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr8:124284000-124285800	Flanking Active TSS	Dnd41	blood
22	chr8:124284000-124286000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:124284000-124286000	Active TSS	Brain Germinal Matrix	brain
24	chr8:124284000-124287400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:124284000-124288000	Active TSS	Ovary	ovary
26	chr8:124284000-124288200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:124284000-124288200	Active TSS	A549	lung
28	chr8:124284200-124285400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:124284200-124285600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:124284200-124285600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:124284200-124285600	Flanking Active TSS	Fetal Brain Male	brain
32	chr8:124284200-124285600	Flanking Active TSS	Fetal Brain Female	brain
33	chr8:124284200-124285600	Flanking Active TSS	NH-A	brain
34	chr8:124284200-124287800	Active TSS	NHLF	lung
35	chr8:124284200-124288000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:124284200-124288200	Active TSS	Right Atrium	heart
37	chr8:124284200-124288200	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:124284400-124285400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr8:124284400-124285400	Enhancers	Primary T cells from cord blood	blood
40	chr8:124284400-124285400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:124284400-124285400	Enhancers	Stomach Mucosa	stomach
42	chr8:124284400-124285800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr8:124284400-124285800	Flanking Active TSS	Fetal Heart	heart
44	chr8:124284400-124286000	Flanking Active TSS	Fetal Stomach	stomach
45	chr8:124284400-124288000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:124284400-124288200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:124284400-124288200	Active TSS	Rectal Smooth Muscle	rectum
48	chr8:124284400-124288200	Active TSS	NHDF-Ad	bronchial
49	chr8:124284600-124285600	Enhancers	Small Intestine	intestine
50	chr8:124284600-124285600	Flanking Active TSS	HMEC	breast

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