Variant report

Variant	esv3421594
Chromosome Location	chr1:92950889-92953737
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	chr1:92951459-92951649	HepG2	liver:	n/a	n/a
2	ATF2	chr1:92952062-92952715	GM12878	blood:	n/a	n/a
3	ATF2	chr1:92951154-92951985	GM12878	blood:	n/a	n/a
4	ATF2	chr1:92952109-92952653	GM12878	blood:	n/a	n/a
5	BACH1	chr1:92950462-92951930	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr1:92951419-92951643	GM12878	blood:	n/a	chr1:92951518-92951531 chr1:92951516-92951529
7	BCL11A	chr1:92951327-92951810	GM12878	blood:	n/a	chr1:92951518-92951531 chr1:92951516-92951529
8	BCL11A	chr1:92952091-92952246	GM12878	blood:	n/a	chr1:92952093-92952106
9	BCL11A	chr1:92952145-92952478	GM12878	blood:	n/a	n/a
10	BCL3	chr1:92952116-92952750	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:92951144-92952015	GM12878	blood:	n/a	chr1:92951518-92951531 chr1:92951284-92951297 chr1:92951516-92951529
12	BCLAF1	chr1:92950824-92951774	GM12878	blood:	n/a	chr1:92951518-92951531 chr1:92951284-92951297 chr1:92951516-92951529
13	BCLAF1	chr1:92952256-92952754	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:92950889-92951855	GM12878	blood:	n/a	chr1:92951281-92951297 chr1:92951364-92951380
15	BHLHE40	chr1:92952253-92952770	GM12878	blood:	n/a	chr1:92952525-92952541
16	BRCA1	chr1:92952643-92952700	HepG2	liver:	n/a	n/a
17	BRCA1	chr1:92951663-92951970	GM12878	blood:	n/a	n/a
18	BRCA1	chr1:92951204-92951349	GM12878	blood:	n/a	n/a
19	BRCA1	chr1:92951490-92951645	Hela-S3	cervix:	n/a	n/a
20	CCNT2	chr1:92950878-92951948	K562	blood:	n/a	chr1:92950961-92950970
21	CEBPB	chr1:92951365-92951513	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:92951746-92951855	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:92951691-92951898	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:92951620-92951885	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:92951617-92951883	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:92951439-92951935	GM12878	blood:	n/a	n/a
27	CHD1	chr1:92952239-92952713	GM12878	blood:	n/a	chr1:92952639-92952649
28	CHD1	chr1:92949844-92951923	GM12878	blood:	n/a	n/a
29	CHD2	chr1:92952284-92952882	GM12878	blood:	n/a	chr1:92952639-92952649
30	CHD2	chr1:92950945-92951061	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr1:92950006-92951950	GM12878	blood:	n/a	n/a
32	CHD2	chr1:92951415-92951886	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:92952603-92952608	HepG2	liver:	n/a	n/a
34	CHD2	chr1:92950499-92951659	HepG2	liver:	n/a	n/a
35	CREB1	chr1:92950019-92951975	HepG2	liver:	n/a	n/a
36	CTBP2	chr1:92947650-92951849	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:92951480-92951630	WERI-Rb-1	eye:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
38	CTCF	chr1:92951480-92951630	GM12869	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
39	CTCF	chr1:92952399-92952650	GM19238	blood:	n/a	n/a
40	CTCF	chr1:92951207-92951684	GM19240	blood:	n/a	chr1:92951365-92951378 chr1:92951524-92951537 chr1:92951530-92951539
41	CTCF	chr1:92951420-92951570	A549	lung:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
42	CTCF	chr1:92951480-92951630	Hela-S3	cervix:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
43	CTCF	chr1:92950980-92951130	GM12870	blood:	n/a	n/a
44	CTCF	chr1:92951383-92951576	A549	lung:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
45	CTCF	chr1:92951380-92951530	AG04450	lung:	n/a	n/a
46	CTCF	chr1:92951440-92951590	K562	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
47	CTCF	chr1:92951460-92951610	HFF	foreskin:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
48	CTCF	chr1:92951438-92951644	Gliobla	brain:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
49	CTCF	chr1:92951505-92951612	ProgFib	skin:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
50	CTCF	chr1:92951200-92951701	GM19238	blood:	n/a	chr1:92951365-92951378 chr1:92951524-92951537 chr1:92951530-92951539

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92952517-92952567	GM12878	blood:	n/a
2	chr1:92952196-92952246	HL-60	blood:	n/a
3	chr1:92952517-92952567	GM12878	blood:	n/a
4	chr1:92952196-92952246	HL-60	blood:	n/a
5	chr1:92951720-92951770	NT2-D1	testis:	n/a
6	chr1:92951487-92951537	ovcar-3	ovarian:	n/a
7	chr1:92952641-92952691	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:92952196-92952246	HMEC	breast:	n/a
9	chr1:92952641-92952691	NH-A	brain:	n/a
10	chr1:92952103-92952153	GM12878	blood:	n/a
11	chr1:92953256-92953306	HepG2	liver:	n/a
12	chr1:92952467-92952517	BE2_C	brain:	n/a
13	chr1:92951720-92951770	HEEpiC	esophagus:	n/a
14	chr1:92953279-92953329	T-47D	breast:	n/a
15	chr1:92952702-92952752	ProgFib	skin:	n/a
16	chr1:92952517-92952567	NHDF-neo	bronchial:	n/a
17	chr1:92953279-92953329	SK-N-SH_RA	brain:	n/a
18	chr1:92952103-92952153	MCF-7	breast:	n/a
19	chr1:92953279-92953329	H1-hESC	embryonic stem cell:	embryo
20	chr1:92952440-92952490	AG04449	skin:	fetal
21	chr1:92951355-92951405	MCF10A-Er-Src	breast:	n/a
22	chr1:92951355-92951405	HCT-116	colon:	n/a
23	chr1:92951594-92951644	CMK	blood:	n/a
24	chr1:92953037-92953087	SAEC	small airway:	n/a
25	chr1:92953256-92953306	AG09319	gingival:	n/a
26	chr1:92952581-92952631	MCF-7	breast:	n/a
27	chr1:92951720-92951770	Jurkat	blood:	n/a
28	chr1:92952103-92952153	HCF	heart:	n/a
29	chr1:92952521-92952571	HAEpiC	amniotic membrane:	n/a
30	chr1:92952261-92952311	HMEC	breast:	n/a
31	chr1:92952189-92952239	SK-N-MC	brain:	n/a
32	chr1:92952581-92952631	U87	brain:	n/a
33	chr1:92952897-92952947	PANC-1	pancreas:	n/a
34	chr1:92952897-92952947	HCT-116	colon:	n/a
35	chr1:92952268-92952318	T-47D	breast:	n/a
36	chr1:92952655-92952705	HRCEpiC	kidney:	n/a
37	chr1:92952196-92952246	CMK	blood:	n/a
38	chr1:92952189-92952239	HCT-116	colon:	n/a
39	chr1:92953256-92953306	HNPCEpiC	eye:	n/a
40	chr1:92952521-92952571	HEK293	kidney:	embryo
41	chr1:92952702-92952752	SK-N-MC	brain:	n/a
42	chr1:92951596-92951646	NT2-D1	testis:	n/a
43	chr1:92952702-92952752	HMEC	breast:	n/a
44	chr1:92952521-92952571	AoSMC	blood vessel:	n/a
45	chr1:92952261-92952311	HEEpiC	esophagus:	n/a
46	chr1:92952655-92952705	HIPEpiC	eye:	n/a
47	chr1:92952189-92952239	PANC-1	pancreas:	n/a
48	chr1:92951594-92951644	NH-A	brain:	n/a
49	chr1:92952581-92952631	HAEpiC	amniotic membrane:	n/a
50	chr1:92952461-92952511	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92952059..92953057-chr7:73097780..73098366,2	NB4	blood:
2	chr1:92951557..92952166-chr11:62608625..62609584,2	NB4	blood:

Variant related genes	Relation type
GFI1	TF binding region
GFI1	CpG island
ENSG00000176410	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000071462	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72722446	chr1:92950921-92950922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4565725	chr1:92950937-92950938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577329173	chr1:92950966-92950967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541231810	chr1:92951021-92951022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113579878	chr1:92951041-92951042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559617635	chr1:92951077-92951078	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530369245	chr1:92951097-92951098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541804002	chr1:92951185-92951186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563559705	chr1:92951196-92951197	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6689470	chr1:92951210-92951211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552353136	chr1:92951218-92951219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs6603975	chr1:92951239-92951240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374420030	chr1:92951307-92951308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546862650	chr1:92951460-92951461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568352138	chr1:92951485-92951486	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535777677	chr1:92951507-92951508	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs555180365	chr1:92951510-92951511	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs550916977	chr1:92951602-92951603	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568727426	chr1:92951618-92951619	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535301344	chr1:92951644-92951645	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113145255	chr1:92951645-92951646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539428549	chr1:92951646-92951647	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112925059	chr1:92951657-92951658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78168925	chr1:92951671-92951672	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs61779245	chr1:92951673-92951674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183565685	chr1:92951700-92951701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572941561	chr1:92951701-92951702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150441184	chr1:92951778-92951779	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs532900378	chr1:92951793-92951794	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575253271	chr1:92951984-92951985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188741204	chr1:92952026-92952027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150037086	chr1:92952080-92952081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs542086278	chr1:92952157-92952158	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs564022490	chr1:92952213-92952214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575508509	chr1:92952215-92952216	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs66635255	chr1:92952218-92952219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs546181544	chr1:92952232-92952233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs75471891	chr1:92952245-92952246	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs181163165	chr1:92952392-92952393	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs116216990	chr1:92952461-92952462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs546796785	chr1:92952516-92952517	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs377682877	chr1:92952525-92952526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs185308131	chr1:92952534-92952535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377143842	chr1:92952556-92952557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569138125	chr1:92952565-92952566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs35023944	chr1:92952626-92952627	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs191594978	chr1:92952660-92952661	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs181702464	chr1:92952697-92952698	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs115045576	chr1:92952771-92952772	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs187351625	chr1:92952849-92952850	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:92945800-92951800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:92946000-92951000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
6	chr1:92946000-92952000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:92946600-92952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
8	chr1:92947000-92951800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr1:92947000-92952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
10	chr1:92947200-92951600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:92947400-92951200	Active TSS	Aorta	Aorta
12	chr1:92947400-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
13	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:92947600-92951200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:92947600-92951200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Placenta	Placenta
19	chr1:92947600-92952200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:92947600-92952400	Active TSS	Thymus	Thymus
21	chr1:92947800-92951000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
22	chr1:92947800-92951600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:92948000-92952000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
28	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:92948200-92951200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
30	chr1:92948200-92952000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr1:92948400-92951200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:92948600-92952200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:92948800-92952000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:92949000-92951000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
40	chr1:92949000-92951000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
41	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:92949200-92951000	Enhancers	Lung	lung
43	chr1:92949200-92951000	Weak transcription	Ovary	ovary
44	chr1:92949200-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr1:92949400-92951000	Flanking Active TSS	Right Ventricle	heart
47	chr1:92949400-92951200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr1:92949600-92951400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:92949600-92951800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr1:92949600-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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