Variant report

Variant	esv3371289
Chromosome Location	chr8:8748742-8753140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:528)
CpG islands
(count:855)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr8:8751036-8751247	GM12878	blood:	n/a	chr8:8751163-8751183
2	ATF3	chr8:8750950-8751310	HepG2	liver:	n/a	chr8:8751163-8751183
3	ATF3	chr8:8750978-8751250	K562	blood:	n/a	chr8:8751163-8751183
4	ATF3	chr8:8750978-8751243	H1-hESC	embryonic stem cell:	n/a	chr8:8751163-8751183
5	ATF3	chr8:8750940-8751242	GM12878	blood:	n/a	chr8:8751163-8751183
6	BACH1	chr8:8751398-8751562	K562	blood:	n/a	n/a
7	BACH1	chr8:8753115-8753116	K562	blood:	n/a	n/a
8	BACH1	chr8:8751377-8751489	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr8:8750870-8751214	GM12878	blood:	n/a	chr8:8751147-8751160 chr8:8750943-8750956
10	BHLHE40	chr8:8750995-8751344	HepG2	liver:	n/a	chr8:8751138-8751154 chr8:8751144-8751160 chr8:8751161-8751174
11	BHLHE40	chr8:8750308-8750515	K562	blood:	n/a	n/a
12	BHLHE40	chr8:8750981-8751590	K562	blood:	n/a	chr8:8751138-8751154 chr8:8751144-8751160 chr8:8751161-8751174
13	BHLHE40	chr8:8750339-8750646	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:8750970-8751320	GM12878	blood:	n/a	chr8:8751138-8751154 chr8:8751144-8751160 chr8:8751161-8751174
15	BRCA1	chr8:8751348-8751425	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr8:8750298-8751487	K562	blood:	n/a	n/a
17	CEBPD	chr8:8750872-8751206	HepG2	liver:	n/a	n/a
18	CHD1	chr8:8749977-8750570	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr8:8751464-8751820	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr8:8751088-8751115	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr8:8749654-8750359	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr8:8750408-8750567	GM12878	blood:	n/a	n/a
23	CHD2	chr8:8751396-8751565	K562	blood:	n/a	n/a
24	CHD2	chr8:8750843-8751239	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr8:8750955-8751370	A549	lung:	n/a	n/a
26	CREB1	chr8:8750429-8750881	A549	lung:	n/a	n/a
27	CTCF	chr8:8750640-8750790	GM12874	blood:	n/a	n/a
28	CTCF	chr8:8751054-8751208	GM10266	blood:	n/a	chr8:8751142-8751155
29	CTCF	chr8:8749660-8749810	GM12871	blood:	n/a	n/a
30	CTCF	chr8:8749620-8749770	GM12874	blood:	n/a	n/a
31	CTCF	chr8:8751100-8751194	Hela-S3	cervix:	n/a	chr8:8751142-8751155
32	CTCF	chr8:8749580-8749730	Caco-2	colon:	n/a	n/a
33	CTCF	chr8:8751021-8751251	HepG2	liver:	n/a	chr8:8751142-8751155
34	CTCF	chr8:8750650-8750788	GM10248	blood:	n/a	n/a
35	CTCF	chr8:8749320-8749470	HRE	kidney:	n/a	n/a
36	CTCF	chr8:8751040-8751229	GM12891	blood:	n/a	chr8:8751142-8751155
37	CTCF	chr8:8751100-8751250	GM12872	blood:	n/a	chr8:8751142-8751155
38	CTCF	chr8:8749591-8749725	LNCaP	prostate:	n/a	n/a
39	CTCF	chr8:8749612-8749773	GM19238	blood:	n/a	n/a
40	CTCF	chr8:8751132-8751173	HepG2	liver:	n/a	chr8:8751142-8751155
41	CTCF	chr8:8749958-8750077	MCF-7	breast:	n/a	n/a
42	CTCF	chr8:8751037-8751242	GM12892	blood:	n/a	chr8:8751142-8751155
43	CTCF	chr8:8751000-8751150	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr8:8751050-8751240	GM19240	blood:	n/a	chr8:8751142-8751155
45	CTCF	chr8:8749622-8749750	K562	blood:	n/a	n/a
46	CTCF	chr8:8749581-8749714	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr8:8751380-8751530	GM06990	blood:	n/a	n/a
48	CTCF	chr8:8750740-8750890	AG04449	skin:	n/a	n/a
49	CTCF	chr8:8749610-8749766	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:8749584-8749795	MCF-7	breast:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8751498-8751548	BJ	skin:	n/a
2	chr8:8751498-8751548	BJ	skin:	n/a
3	chr8:8749343-8749393	LNCaP	prostate:	n/a
4	chr8:8749938-8749988	NH-A	brain:	n/a
5	chr8:8749278-8749328	SK-N-SH	brain:	n/a
6	chr8:8751477-8751527	BJ	skin:	n/a
7	chr8:8749938-8749988	K562	blood:	n/a
8	chr8:8751477-8751527	CMK	blood:	n/a
9	chr8:8749938-8749988	MCF10A-Er-Src	breast:	n/a
10	chr8:8751477-8751527	PrEC	prostate:	n/a
11	chr8:8750517-8750567	Hepatocyte	liver:	n/a
12	chr8:8750517-8750567	HCPEpiC	choroid plexus:	n/a
13	chr8:8749343-8749393	A549	lung:	n/a
14	chr8:8749343-8749393	BE2_C	brain:	n/a
15	chr8:8749938-8749988	HAEpiC	amniotic membrane:	n/a
16	chr8:8749343-8749393	PrEC	prostate:	n/a
17	chr8:8749919-8749969	ECC-1	luminal epithelium:	n/a
18	chr8:8751409-8751459	SK-N-MC	brain:	n/a
19	chr8:8751498-8751548	PANC-1	pancreas:	n/a
20	chr8:8748792-8748842	SK-N-SH_RA	brain:	n/a
21	chr8:8750314-8750364	HIPEpiC	eye:	n/a
22	chr8:8749343-8749393	SK-N-MC	brain:	n/a
23	chr8:8752348-8752398	Caco-2	colon:	n/a
24	chr8:8749919-8749969	HEEpiC	esophagus:	n/a
25	chr8:8751325-8751375	HUVEC	blood vessel:	n/a
26	chr8:8749074-8749124	ECC-1	luminal epithelium:	n/a
27	chr8:8749919-8749969	SK-N-SH	brain:	n/a
28	chr8:8749494-8749544	T-47D	breast:	n/a
29	chr8:8751325-8751375	A549	lung:	n/a
30	chr8:8748792-8748842	AG09309	skin:	n/a
31	chr8:8751325-8751375	PFSK-1	brain:	n/a
32	chr8:8749278-8749328	HNPCEpiC	eye:	n/a
33	chr8:8749919-8749969	HCT-116	colon:	n/a
34	chr8:8751409-8751459	MCF10A-Er-Src	breast:	n/a
35	chr8:8749938-8749988	HRE	kidney:	n/a
36	chr8:8751325-8751375	HRCEpiC	kidney:	n/a
37	chr8:8749494-8749544	GM12878	blood:	n/a
38	chr8:8749343-8749393	NT2-D1	testis:	n/a
39	chr8:8750517-8750567	HRE	kidney:	n/a
40	chr8:8752348-8752398	LNCaP	prostate:	n/a
41	chr8:8751477-8751527	SAEC	small airway:	n/a
42	chr8:8749494-8749544	Caco-2	colon:	n/a
43	chr8:8751477-8751527	GM12878	blood:	n/a
44	chr8:8752348-8752398	HRE	kidney:	n/a
45	chr8:8749343-8749393	GM12892	blood:	n/a
46	chr8:8750517-8750567	AG04450	lung:	fetal
47	chr8:8749919-8749969	AG10803	skin:	n/a
48	chr8:8749278-8749328	ProgFib	skin:	n/a
49	chr8:8751477-8751527	AG04450	lung:	fetal
50	chr8:8749278-8749328	NH-A	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8726269..8728991-chr8:8747261..8749561,2	K562	blood:
2	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:
3	chr8:8647143..8649997-chr8:8748170..8750908,2	MCF-7	breast:
4	chr8:8715858..8717945-chr8:8749655..8752629,2	K562	blood:
5	chr8:8678976..8682016-chr8:8748981..8752043,3	MCF-7	breast:
6	chr8:8678713..8680298-chr8:8749363..8750992,2	MCF-7	breast:
7	chr8:8742135..8744016-chr8:8747118..8749376,2	K562	blood:
8	chr8:8707079..8709143-chr8:8751442..8753018,2	MCF-7	breast:
9	chr8:8676467..8679551-chr8:8749550..8751180,3	K562	blood:
10	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:

No data

Variant related genes	Relation type
MFHAS1	TF binding region
RNU6-682P	TF binding region
MFHAS1	CpG island
RNU6-682P	CpG island
ENSG00000104626	chromatin interactions
ENSG00000147324	chromatin interactions
ENSG00000254367	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375316622	chr8:8748758-8748759	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs142559689	chr8:8748759-8748760	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150944602	chr8:8748772-8748773	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs140782884	chr8:8748785-8748786	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372323692	chr8:8748791-8748792	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375503932	chr8:8748792-8748793	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs181981017	chr8:8748807-8748808	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs369928764	chr8:8748817-8748818	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373420225	chr8:8748833-8748834	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs375789070	chr8:8748834-8748835	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368822276	chr8:8748840-8748841	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs145675259	chr8:8748849-8748850	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200026075	chr8:8748850-8748851	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375315692	chr8:8748869-8748870	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs147778000	chr8:8748874-8748875	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs201875377	chr8:8748876-8748877	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141836174	chr8:8748877-8748878	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376330301	chr8:8748883-8748884	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369023287	chr8:8748892-8748893	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200810541	chr8:8748893-8748894	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147123199	chr8:8748902-8748903	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs370204052	chr8:8748918-8748919	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs387261	chr8:8748930-8748931	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs405251	chr8:8748931-8748932	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372634552	chr8:8748953-8748954	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs565604644	chr8:8748955-8748956	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs558634917	chr8:8748983-8748984	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs138267533	chr8:8748988-8748989	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs149204523	chr8:8748995-8748996	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs143346462	chr8:8749024-8749025	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs148315756	chr8:8749041-8749042	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs560880992	chr8:8749044-8749045	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs142063688	chr8:8749048-8749049	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs202143016	chr8:8749049-8749050	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs200309914	chr8:8749077-8749078	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs529772352	chr8:8749093-8749094	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372416316	chr8:8749099-8749100	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs146295336	chr8:8749104-8749105	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs377646802	chr8:8749133-8749134	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs576892747	chr8:8749147-8749148	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs541104232	chr8:8749148-8749149	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs138248749	chr8:8749158-8749159	Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs141837498	chr8:8749208-8749209	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs199680331	chr8:8749214-8749215	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs371405196	chr8:8749224-8749225	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs146286290	chr8:8749232-8749233	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs373170092	chr8:8749234-8749235	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs139200475	chr8:8749245-8749246	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201038672	chr8:8749253-8749254	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs552175156	chr8:8749256-8749257	Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8745200-8749000	Active TSS	Brain Substantia Nigra	brain
2	chr8:8745200-8749200	Active TSS	Brain Angular Gyrus	brain
3	chr8:8745200-8749200	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:8745200-8750200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr8:8745800-8750600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:8746200-8749400	Enhancers	Stomach Mucosa	stomach
7	chr8:8746400-8749600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:8747000-8749000	Weak transcription	Psoas Muscle	Psoas
9	chr8:8747000-8749400	Transcr. at gene 5' and 3'	Fetal Lung	lung
10	chr8:8747200-8748800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
11	chr8:8747200-8749000	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr8:8747200-8749200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
13	chr8:8747200-8749200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:8747200-8749400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
15	chr8:8747200-8749600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:8747200-8750200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:8747400-8748800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
18	chr8:8747400-8748800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
19	chr8:8747400-8749000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr8:8747400-8749200	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:8747400-8749200	Genic enhancers	Pancreas	Pancrea
22	chr8:8747400-8749400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr8:8747400-8749400	Enhancers	Small Intestine	intestine
24	chr8:8747400-8749600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr8:8747400-8749800	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr8:8747400-8750000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:8747600-8749000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:8747600-8749000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:8747600-8749200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:8747600-8749200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:8747600-8749200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:8747600-8749200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
33	chr8:8747600-8749200	Genic enhancers	Gastric	stomach
34	chr8:8747600-8749400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:8747600-8749400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
36	chr8:8747600-8749600	Transcr. at gene 5' and 3'	A549	lung
37	chr8:8747600-8749600	Transcr. at gene 5' and 3'	NHLF	lung
38	chr8:8747600-8750200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr8:8747600-8750200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:8747800-8748800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:8747800-8748800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:8747800-8749000	Genic enhancers	Fetal Intestine Large	intestine
43	chr8:8747800-8749200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:8747800-8749200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:8747800-8749200	Genic enhancers	Fetal Stomach	stomach
46	chr8:8747800-8749200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:8747800-8749200	Weak transcription	HSMM	muscle
48	chr8:8747800-8749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:8747800-8749400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:8747800-8749600	Enhancers	Right Atrium	heart

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