Variant report

Variant	esv3393448
Chromosome Location	chr17:38218451-38220999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:412)
CpG islands
(count:732)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:38219335-38219593	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:38218569-38218625	K562	blood:	n/a	n/a
3	BCL3	chr17:38220275-38220910	GM12878	blood:	n/a	n/a
4	BCL3	chr17:38220290-38220803	GM12878	blood:	n/a	n/a
5	BHLHE40	chr17:38219388-38219928	K562	blood:	n/a	n/a
6	BHLHE40	chr17:38220307-38220853	K562	blood:	n/a	chr17:38220406-38220422
7	BHLHE40	chr17:38218514-38218813	K562	blood:	n/a	n/a
8	BHLHE40	chr17:38220510-38220757	GM12878	blood:	n/a	n/a
9	BHLHE40	chr17:38219333-38219525	GM12878	blood:	n/a	n/a
10	BRCA1	chr17:38219833-38219848	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr17:38220429-38220763	K562	blood:	n/a	n/a
12	CCNT2	chr17:38219005-38219870	K562	blood:	n/a	chr17:38219743-38219752 chr17:38219736-38219745
13	CEBPB	chr17:38219308-38220120	Hela-S3	cervix:	n/a	chr17:38219394-38219405
14	CEBPB	chr17:38219759-38220076	A549	lung:	n/a	n/a
15	CEBPB	chr17:38219321-38219561	K562	blood:	n/a	chr17:38219394-38219405
16	CEBPB	chr17:38219321-38220086	HepG2	liver:	n/a	chr17:38219394-38219405
17	CEBPB	chr17:38219814-38220110	A549	lung:	n/a	n/a
18	CEBPB	chr17:38220464-38220772	K562	blood:	n/a	n/a
19	CEBPB	chr17:38219823-38219999	K562	blood:	n/a	n/a
20	CEBPB	chr17:38219823-38220023	HepG2	liver:	n/a	n/a
21	CEBPB	chr17:38219322-38220082	HepG2	liver:	n/a	chr17:38219394-38219405
22	CEBPB	chr17:38219723-38220087	IMR90	lung:	n/a	n/a
23	CEBPB	chr17:38219762-38220082	K562	blood:	n/a	n/a
24	CEBPB	chr17:38219295-38220042	H1-hESC	embryonic stem cell:	n/a	chr17:38219394-38219405
25	CEBPB	chr17:38219701-38220072	K562	blood:	n/a	n/a
26	CEBPB	chr17:38219708-38220065	HepG2	liver:	n/a	n/a
27	CEBPD	chr17:38219083-38219923	HepG2	liver:	n/a	n/a
28	CHD2	chr17:38219182-38219334	GM12878	blood:	n/a	n/a
29	CHD2	chr17:38220438-38220490	K562	blood:	n/a	n/a
30	CHD2	chr17:38219715-38219818	GM12878	blood:	n/a	n/a
31	CHD2	chr17:38219337-38219852	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr17:38219454-38219584	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr17:38219026-38219796	A549	lung:	n/a	n/a
34	CTCF	chr17:38219020-38219170	GM12866	blood:	n/a	n/a
35	CTCF	chr17:38218790-38218861	GM12891	blood:	n/a	n/a
36	CTCF	chr17:38219740-38219890	GM12871	blood:	n/a	chr17:38219784-38219797
37	CTCF	chr17:38218903-38218915	GM19240	blood:	n/a	n/a
38	CTCF	chr17:38218640-38218790	HMEC	breast:	n/a	n/a
39	CTCF	chr17:38218994-38219189	GM10266	blood:	n/a	n/a
40	CTCF	chr17:38219063-38219172	Medullo	brain:	n/a	n/a
41	CTCF	chr17:38218560-38218710	HRE	kidney:	n/a	n/a
42	CTCF	chr17:38219015-38219016	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr17:38218980-38219130	SAEC	small airway:	n/a	n/a
44	CTCF	chr17:38218960-38219110	NHEK	skin:	n/a	n/a
45	CTCF	chr17:38219062-38219149	HepG2	liver:	n/a	n/a
46	CTCF	chr17:38218900-38219050	HVMF	connective:	n/a	n/a
47	CTCF	chr17:38218980-38219130	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr17:38218769-38218898	GM19238	blood:	n/a	n/a
49	CTCF	chr17:38219016-38219189	GM10248	blood:	n/a	n/a
50	CTCF	chr17:38219058-38219153	H1-hESC	embryonic stem cell:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38219361-38219411	MCF-7	breast:	n/a
2	chr17:38219837-38219887	GM19239	blood:	n/a
3	chr17:38219837-38219887	NHDF-neo	bronchial:	n/a
4	chr17:38219837-38219887	HepG2	liver:	n/a
5	chr17:38220298-38220348	HCM	heart:	n/a
6	chr17:38218936-38218986	AG04450	lung:	fetal
7	chr17:38218936-38218986	GM19239	blood:	n/a
8	chr17:38218936-38218986	Hepatocyte	liver:	n/a
9	chr17:38218601-38218651	ECC-1	luminal epithelium:	n/a
10	chr17:38219592-38219642	MCF-7	breast:	n/a
11	chr17:38218791-38218841	LNCaP	prostate:	n/a
12	chr17:38219361-38219411	U87	brain:	n/a
13	chr17:38218738-38218788	ProgFib	skin:	n/a
14	chr17:38218601-38218651	GM19239	blood:	n/a
15	chr17:38218791-38218841	A549	lung:	n/a
16	chr17:38218738-38218788	HPAEpiC	pulmonary alveolar:	n/a
17	chr17:38218738-38218788	AG04449	skin:	fetal
18	chr17:38219410-38219460	Caco-2	colon:	n/a
19	chr17:38218738-38218788	Hela-S3	cervix:	n/a
20	chr17:38219592-38219642	NT2-D1	testis:	n/a
21	chr17:38218943-38218993	SAEC	small airway:	n/a
22	chr17:38219410-38219460	Hepatocyte	liver:	n/a
23	chr17:38219837-38219887	PFSK-1	brain:	n/a
24	chr17:38219837-38219887	GM12891	blood:	n/a
25	chr17:38220694-38220744	CMK	blood:	n/a
26	chr17:38219837-38219887	H1-hESC	embryonic stem cell:	embryo
27	chr17:38219410-38219460	GM19239	blood:	n/a
28	chr17:38220298-38220348	ECC-1	luminal epithelium:	n/a
29	chr17:38220298-38220348	CMK	blood:	n/a
30	chr17:38219837-38219887	T-47D	breast:	n/a
31	chr17:38218791-38218841	HepG2	liver:	n/a
32	chr17:38219410-38219460	HEEpiC	esophagus:	n/a
33	chr17:38219361-38219411	HCT-116	colon:	n/a
34	chr17:38218936-38218986	HCF	heart:	n/a
35	chr17:38218601-38218651	HMEC	breast:	n/a
36	chr17:38218738-38218788	SK-N-SH_RA	brain:	n/a
37	chr17:38219410-38219460	GM06990	blood:	n/a
38	chr17:38220694-38220744	HPAEpiC	pulmonary alveolar:	n/a
39	chr17:38218601-38218651	HIPEpiC	eye:	n/a
40	chr17:38218738-38218788	HRPEpiC	eye:	n/a
41	chr17:38218601-38218651	GM06990	blood:	n/a
42	chr17:38219837-38219887	PrEC	prostate:	n/a
43	chr17:38220694-38220744	HEK293	kidney:	embryo
44	chr17:38219361-38219411	AoSMC	blood vessel:	n/a
45	chr17:38218936-38218986	NHDF-neo	bronchial:	n/a
46	chr17:38218791-38218841	ProgFib	skin:	n/a
47	chr17:38219592-38219642	HCM	heart:	n/a
48	chr17:38219085-38219135	HEEpiC	esophagus:	n/a
49	chr17:38218943-38218993	H1-hESC	embryonic stem cell:	embryo
50	chr17:38219410-38219460	BJ	skin:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
2	chr17:38219845..38222489-chr17:38296563..38298263,2	MCF-7	breast:
3	chr17:38220501..38223267-chr17:38295582..38297951,3	K562	blood:
4	chr17:38217616..38219835-chr17:38296248..38299363,4	K562	blood:
5	chr17:38220009..38224777-chr17:38226169..38228893,5	MCF-7	breast:
6	chr17:38218382..38219065-chr17:38324572..38325105,2	MCF-7	breast:
7	chr17:38219039..38222172-chr17:38223812..38229284,8	MCF-7	breast:
8	chr17:32201562..32204443-chr17:38220191..38222561,2	K562	blood:
9	chr17:38181477..38183501-chr17:38217583..38219827,2	MCF-7	breast:
10	chr17:38210481..38212413-chr17:38218576..38220480,2	MCF-7	breast:
11	chr17:38216131..38218859-chr17:38295458..38297078,2	K562	blood:
12	chr17:38220464..38222269-chr17:38268473..38270990,2	MCF-7	breast:
13	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
14	chr17:38219447..38219963-chr5:43017829..43018653,2	NB4	blood:
15	chr17:38219532..38222317-chr17:38232085..38234272,2	MCF-7	breast:
16	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
17	chr17:38220467..38222012-chr17:38237348..38240204,2	K562	blood:
18	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
19	chr17:38219023..38219851-chr8:1710924..1711761,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MED24	TF binding region
THRA	TF binding region
MED24	CpG island
THRA	CpG island
ENSG00000251131	chromatin interactions
ENSG00000126368	chromatin interactions
ENSG00000008838	chromatin interactions
ENSG00000126351	chromatin interactions
ENSG00000188895	chromatin interactions
ENSG00000108349	chromatin interactions
ENSG00000253982	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181541585	chr17:38218454-38218455	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs375564721	chr17:38218473-38218474	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs563483754	chr17:38218505-38218506	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs531001169	chr17:38218519-38218520	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs186195118	chr17:38218526-38218527	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs535458777	chr17:38218572-38218573	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs368314526	chr17:38218611-38218612	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs139374611	chr17:38218618-38218619	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs528513397	chr17:38218645-38218646	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs62065216	chr17:38218773-38218774	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs7502233	chr17:38218804-38218805	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs529543356	chr17:38218822-38218823	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs28681185	chr17:38218905-38218906	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs4602088	chr17:38218964-38218965	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs4372740	chr17:38218983-38218984	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs4581752	chr17:38218985-38218986	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs7502539	chr17:38219005-38219006	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569366191	chr17:38219186-38219187	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs537121045	chr17:38219251-38219252	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs371756196	chr17:38219328-38219329	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs558397531	chr17:38219369-38219370	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs570411861	chr17:38219384-38219385	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs181963734	chr17:38219498-38219499	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs553007837	chr17:38219506-38219507	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs111828565	chr17:38219511-38219512	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs574746089	chr17:38219540-38219541	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs187426706	chr17:38219603-38219604	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs114208005	chr17:38219633-38219634	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs575378955	chr17:38219670-38219671	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs546265258	chr17:38219686-38219687	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs375813621	chr17:38219746-38219747	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs190596188	chr17:38219808-38219809	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs73305066	chr17:38219828-38219829	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs540186320	chr17:38219855-38219856	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs558031437	chr17:38219879-38219880	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs570795766	chr17:38219880-38219881	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs529509156	chr17:38219896-38219897	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs144972084	chr17:38219932-38219933	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs563075727	chr17:38219957-38219958	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs533394611	chr17:38220053-38220054	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs149059655	chr17:38220075-38220076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs200325527	chr17:38220131-38220132	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs570404898	chr17:38220178-38220179	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs534717161	chr17:38220213-38220214	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs546586822	chr17:38220379-38220380	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs568086665	chr17:38220405-38220406	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs535727144	chr17:38220408-38220409	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs61554907	chr17:38220432-38220433	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144271430	chr17:38220486-38220487	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs539303987	chr17:38220499-38220500	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20409316	CNVD
HIV/AIDS	18360285	CNVD
HIV/AIDS	17330138	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38211200-38218600	Weak transcription	Left Ventricle	heart
2	chr17:38211200-38218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:38214800-38218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:38214800-38218600	Weak transcription	HUVEC	blood vessel
5	chr17:38215000-38218600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:38215200-38218600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:38215200-38218600	Weak transcription	Right Atrium	heart
8	chr17:38216000-38218600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:38216600-38218600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:38217200-38218600	Enhancers	Pancreas	Pancrea
11	chr17:38217200-38218800	Enhancers	Esophagus	oesophagus
12	chr17:38217400-38218600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:38217400-38218600	Enhancers	Fetal Muscle Leg	muscle
14	chr17:38217400-38218600	Enhancers	Spleen	Spleen
15	chr17:38217400-38218800	Flanking Active TSS	Fetal Brain Female	brain
16	chr17:38217400-38218800	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr17:38217600-38218600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr17:38217600-38218600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr17:38217600-38218800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr17:38217600-38218800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:38217800-38218600	Enhancers	NHLF	lung
22	chr17:38218000-38218600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr17:38218000-38218600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr17:38218000-38218600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:38218000-38218600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr17:38218000-38218600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr17:38218000-38219000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr17:38218200-38218600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr17:38218200-38218600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:38218200-38218600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:38218200-38218600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:38218200-38218600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:38218200-38218600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr17:38218200-38218600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:38218200-38218600	Enhancers	Fetal Stomach	stomach
36	chr17:38218200-38218600	Enhancers	Ovary	ovary
37	chr17:38218200-38218600	Enhancers	Right Ventricle	heart
38	chr17:38218200-38218600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr17:38218200-38218600	Enhancers	Thymus	Thymus
40	chr17:38218200-38218800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr17:38218200-38218800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:38218200-38218800	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr17:38218200-38218800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr17:38218200-38218800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr17:38218200-38218800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr17:38218200-38218800	Flanking Active TSS	Fetal Brain Male	brain
47	chr17:38218400-38218600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr17:38218400-38218600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr17:38218400-38218600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr17:38218400-38218600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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