Variant report

Variant	esv1805100
Chromosome Location	chr8:8747894-8752684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:540)
CpG islands
(count:915)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:540 , 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	chr8:8750978-8751250	K562	blood:	n/a	chr8:8751163-8751183
2	ATF3	chr8:8750950-8751310	HepG2	liver:	n/a	chr8:8751163-8751183
3	ATF3	chr8:8750940-8751242	GM12878	blood:	n/a	chr8:8751163-8751183
4	ATF3	chr8:8750978-8751243	H1-hESC	embryonic stem cell:	n/a	chr8:8751163-8751183
5	ATF3	chr8:8751036-8751247	GM12878	blood:	n/a	chr8:8751163-8751183
6	BACH1	chr8:8751398-8751562	K562	blood:	n/a	n/a
7	BACH1	chr8:8751377-8751489	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr8:8750870-8751214	GM12878	blood:	n/a	chr8:8751147-8751160 chr8:8750943-8750956
9	BHLHE40	chr8:8747792-8747920	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:8750995-8751344	HepG2	liver:	n/a	chr8:8751138-8751154 chr8:8751144-8751160 chr8:8751161-8751174
11	BHLHE40	chr8:8750981-8751590	K562	blood:	n/a	chr8:8751138-8751154 chr8:8751144-8751160 chr8:8751161-8751174
12	BHLHE40	chr8:8750308-8750515	K562	blood:	n/a	n/a
13	BHLHE40	chr8:8750970-8751320	GM12878	blood:	n/a	chr8:8751138-8751154 chr8:8751144-8751160 chr8:8751161-8751174
14	BHLHE40	chr8:8750339-8750646	GM12878	blood:	n/a	n/a
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	chr8:8751396-8751565	K562	blood:	n/a	n/a
22	CHD2	chr8:8749654-8750359	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr8:8750408-8750567	GM12878	blood:	n/a	n/a
24	CHD2	chr8:8750843-8751239	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr8:8750429-8750881	A549	lung:	n/a	n/a
26	CREB1	chr8:8750955-8751370	A549	lung:	n/a	n/a
27	CTCF	chr8:8750600-8750750	GM12866	blood:	n/a	n/a
28	CTCF	chr8:8750683-8750801	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:8749520-8749670	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr8:8751079-8751206	Lung_OC	lung:	n/a	chr8:8751142-8751155
31	CTCF	chr8:8751040-8751229	GM12891	blood:	n/a	chr8:8751142-8751155
32	CTCF	chr8:8750636-8750791	GM12891	blood:	n/a	n/a
33	CTCF	chr8:8751100-8751250	GM12868	blood:	n/a	chr8:8751142-8751155
34	CTCF	chr8:8751089-8751235	Pancreas_OC	pancreas:	n/a	chr8:8751142-8751155
35	CTCF	chr8:8749610-8749766	MCF-7	breast:	n/a	n/a
36	CTCF	chr8:8749635-8749731	Gliobla	brain:	n/a	n/a
37	CTCF	chr8:8751136-8751213	Kidney_OC	kidney:	n/a	chr8:8751142-8751155
38	CTCF	chr8:8750996-8751309	K562	blood:	n/a	chr8:8751142-8751155
39	CTCF	chr8:8750683-8750889	GM19238	blood:	n/a	n/a
40	CTCF	chr8:8751000-8751150	AG04449	skin:	n/a	n/a
41	CTCF	chr8:8750836-8751314	GM12878	blood:	n/a	chr8:8751142-8751155
42	CTCF	chr8:8749591-8749798	MCF-7	breast:	n/a	n/a
43	CTCF	chr8:8751037-8751242	GM12892	blood:	n/a	chr8:8751142-8751155
44	CTCF	chr8:8749676-8749710	ProgFib	skin:	n/a	n/a
45	CTCF	chr8:8749593-8749748	LNCaP	prostate:	n/a	n/a
46	CTCF	chr8:8751061-8751229	K562	blood:	n/a	chr8:8751142-8751155
47	CTCF	chr8:8751040-8751190	GM12875	blood:	n/a	chr8:8751142-8751155
48	CTCF	chr8:8750640-8750790	GM12865	blood:	n/a	n/a
49	CTCF	chr8:8749597-8749772	A549	lung:	n/a	n/a
50	CTCF	chr8:8751132-8751173	HepG2	liver:	n/a	chr8:8751142-8751155

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8749278-8749328	AG04450	lung:	fetal
2	chr8:8751325-8751375	A549	lung:	n/a
3	chr8:8749074-8749124	NHBE	bronchial:	n/a
4	chr8:8750517-8750567	PFSK-1	brain:	n/a
5	chr8:8749494-8749544	GM12892	blood:	n/a
6	chr8:8751409-8751459	GM12891	blood:	n/a
7	chr8:8749343-8749393	K562	blood:	n/a
8	chr8:8750314-8750364	HRCEpiC	kidney:	n/a
9	chr8:8751325-8751375	T-47D	breast:	n/a
10	chr8:8749343-8749393	HepG2	liver:	n/a
11	chr8:8751477-8751527	NT2-D1	testis:	n/a
12	chr8:8751477-8751527	HEEpiC	esophagus:	n/a
13	chr8:8750517-8750567	SKMC	muscle:	n/a
14	chr8:8748536-8748586	ProgFib	skin:	n/a
15	chr8:8751325-8751375	HepG2	liver:	n/a
16	chr8:8750314-8750364	AoSMC	blood vessel:	n/a
17	chr8:8749074-8749124	GM12878	blood:	n/a
18	chr8:8751409-8751459	HCF	heart:	n/a
19	chr8:8751477-8751527	HMEC	breast:	n/a
20	chr8:8748536-8748586	SK-N-MC	brain:	n/a
21	chr8:8752348-8752398	AG09319	gingival:	n/a
22	chr8:8749278-8749328	HCT-116	colon:	n/a
23	chr8:8749343-8749393	HEK293	kidney:	embryo
24	chr8:8748536-8748586	GM19239	blood:	n/a
25	chr8:8749278-8749328	HL-60	blood:	n/a
26	chr8:8751325-8751375	ovcar-3	ovarian:	n/a
27	chr8:8748792-8748842	K562	blood:	n/a
28	chr8:8749494-8749544	HPAEpiC	pulmonary alveolar:	n/a
29	chr8:8748792-8748842	HRPEpiC	eye:	n/a
30	chr8:8751498-8751548	Jurkat	blood:	n/a
31	chr8:8752348-8752398	HIPEpiC	eye:	n/a
32	chr8:8749494-8749544	T-47D	breast:	n/a
33	chr8:8751498-8751548	A549	lung:	n/a
34	chr8:8749494-8749544	IMR90	lung:	fetal
35	chr8:8751325-8751375	HPAEpiC	pulmonary alveolar:	n/a
36	chr8:8749343-8749393	NB4	blood:	n/a
37	chr8:8751477-8751527	RPTEC	kidney:	n/a
38	chr8:8750517-8750567	NT2-D1	testis:	n/a
39	chr8:8749343-8749393	IMR90	lung:	fetal
40	chr8:8750517-8750567	AG04450	lung:	fetal
41	chr8:8749074-8749124	IMR90	lung:	fetal
42	chr8:8749074-8749124	ovcar-3	ovarian:	n/a
43	chr8:8752348-8752398	PrEC	prostate:	n/a
44	chr8:8749494-8749544	ovcar-3	ovarian:	n/a
45	chr8:8750314-8750364	SK-N-SH_RA	brain:	n/a
46	chr8:8751325-8751375	GM06990	blood:	n/a
47	chr8:8750517-8750567	K562	blood:	n/a
48	chr8:8749938-8749988	GM06990	blood:	n/a
49	chr8:8748792-8748842	LNCaP	prostate:	n/a
50	chr8:8751409-8751459	PFSK-1	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8676467..8679551-chr8:8749550..8751180,3	K562	blood:
2	chr8:8726269..8728991-chr8:8747261..8749561,2	K562	blood:
3	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
4	chr8:8678713..8680298-chr8:8749363..8750992,2	MCF-7	breast:
5	chr8:8640474..8642635-chr8:8745832..8748288,2	MCF-7	breast:
6	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:
7	chr8:8678976..8682016-chr8:8748981..8752043,3	MCF-7	breast:
8	chr8:8707079..8709143-chr8:8751442..8753018,2	MCF-7	breast:
9	chr8:8742135..8744016-chr8:8747118..8749376,2	K562	blood:
10	chr8:8647143..8649997-chr8:8748170..8750908,2	MCF-7	breast:
11	chr8:8715858..8717945-chr8:8749655..8752629,2	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
ENSG00000254367	chromatin interactions
ENSG00000104626	chromatin interactions
ENSG00000147324	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs429433	chr8:8747894-8747895	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571238216	chr8:8747925-8747926	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144223026	chr8:8747926-8747927	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148726411	chr8:8747972-8747973	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201828693	chr8:8747986-8747987	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550696528	chr8:8747991-8747992	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151104597	chr8:8747996-8747997	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141071287	chr8:8747997-8747998	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75923733	chr8:8748032-8748033	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs61753913	chr8:8748041-8748042	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553281752	chr8:8748056-8748057	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146502253	chr8:8748058-8748059	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139976609	chr8:8748062-8748063	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370195100	chr8:8748063-8748064	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557824055	chr8:8748065-8748066	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143338986	chr8:8748068-8748069	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146731825	chr8:8748082-8748083	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372624183	chr8:8748132-8748133	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150242082	chr8:8748162-8748163	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375640553	chr8:8748170-8748171	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200856967	chr8:8748188-8748189	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	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550424418	chr8:8748227-8748228	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370580365	chr8:8748228-8748229	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61748276	chr8:8748244-8748245	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150332195	chr8:8748254-8748255	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144886583	chr8:8748263-8748264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542844021	chr8:8748266-8748267	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568897405	chr8:8748282-8748283	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149044537	chr8:8748302-8748303	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145773634	chr8:8748306-8748307	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573167495	chr8:8748332-8748333	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570199760	chr8:8748343-8748344	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139308568	chr8:8748344-8748345	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545693944	chr8:8748361-8748362	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs138838670	chr8:8748391-8748392	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs147081527	chr8:8748401-8748402	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs35971977	chr8:8748403-8748404	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374704292	chr8:8748416-8748417	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs141885254	chr8:8748455-8748456	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs150651778	chr8:8748457-8748458	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs199996649	chr8:8748459-8748460	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138720400	chr8:8748462-8748463	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374653073	chr8:8748475-8748476	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs368940532	chr8:8748502-8748503	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs550387774	chr8:8748508-8748509	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs199638952	chr8:8748536-8748537	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs372672966	chr8:8748537-8748538	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs375027432	chr8:8748542-8748543	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201904921	chr8:8748554-8748555	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546780560	chr8:8748564-8748565	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 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:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8743200-8748200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:8745200-8748600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:8745200-8749000	Active TSS	Brain Substantia Nigra	brain
4	chr8:8745200-8749200	Active TSS	Brain Angular Gyrus	brain
5	chr8:8745200-8749200	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:8745200-8750200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr8:8745400-8748200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:8745400-8748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:8745600-8748000	Flanking Active TSS	Liver	Liver
10	chr8:8745600-8748200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:8745600-8748200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
12	chr8:8745600-8748200	Flanking Active TSS	Fetal Heart	heart
13	chr8:8745800-8748000	Active TSS	Brain Anterior Caudate	brain
14	chr8:8745800-8748200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:8745800-8750600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:8746200-8749400	Enhancers	Stomach Mucosa	stomach
17	chr8:8746400-8749600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr8:8747000-8748000	Flanking Active TSS	NH-A	brain
19	chr8:8747000-8748000	Flanking Active TSS	Osteobl	bone
20	chr8:8747000-8748200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr8:8747000-8748400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:8747000-8748400	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:8747000-8748400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr8:8747000-8748400	Flanking Active TSS	Hela-S3	cervix
25	chr8:8747000-8748600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:8747000-8749000	Weak transcription	Psoas Muscle	Psoas
27	chr8:8747000-8749400	Transcr. at gene 5' and 3'	Fetal Lung	lung
28	chr8:8747200-8748000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr8:8747200-8748000	Flanking Active TSS	Right Ventricle	heart
30	chr8:8747200-8748000	Transcr. at gene 5' and 3'	Thymus	Thymus
31	chr8:8747200-8748000	Enhancers	Spleen	Spleen
32	chr8:8747200-8748000	Flanking Active TSS	HSMMtube	muscle
33	chr8:8747200-8748000	Flanking Active TSS	K562	blood
34	chr8:8747200-8748200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:8747200-8748200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:8747200-8748200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:8747200-8748200	Flanking Active TSS	GM12878-XiMat	blood
38	chr8:8747200-8748200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr8:8747200-8748400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
40	chr8:8747200-8748400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:8747200-8748600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
42	chr8:8747200-8748600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr8:8747200-8748600	Enhancers	Ovary	ovary
44	chr8:8747200-8748800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
45	chr8:8747200-8749000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr8:8747200-8749200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
47	chr8:8747200-8749200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:8747200-8749400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
49	chr8:8747200-8749600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:8747200-8750200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links