Variant report

Variant	rs72917782
Chromosome Location	chr4:122288292-122288293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28663623	1.00[EUR][1000 genomes]
rs28716099	1.00[EUR][1000 genomes]
rs61733540	1.00[EUR][1000 genomes]
rs6849687	1.00[EUR][1000 genomes]
rs692689	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv4494	chr4:122256838-122290461	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1003747	chr4:122273631-122291131	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
8	nsv1014710	chr4:122273631-122292143	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv437422	chr4:122276876-122291522	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv508308	chr4:122278897-122312719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv595335	chr4:122280041-122288370	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv10559	chr4:122281398-122292297	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3511588	chr4:122281552-122290950	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
14	esv2533163	chr4:122281681-122288646	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv2539204	chr4:122281761-122290800	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
16	nsv1003477	chr4:122281973-122297539	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv822714	chr4:122282044-122289274	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv2385732	chr4:122282057-122290169	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv3467366	chr4:122282112-122290058	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv3467367	chr4:122282146-122290011	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv3467364	chr4:122282154-122290037	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
22	esv3511587	chr4:122282181-122289998	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
23	esv3467365	chr4:122282233-122289961	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
24	esv15937	chr4:122282239-122290674	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
25	esv3511586	chr4:122282241-122289964	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
26	nsv514249	chr4:122282246-122289134	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv499065	chr4:122282249-122289954	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
28	esv3467368	chr4:122282250-122289955	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
29	esv3511589	chr4:122282250-122289955	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
30	nsv822715	chr4:122282359-122289053	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
31	nsv1001654	chr4:122282456-122297539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv1012376	chr4:122282456-122299460	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	esv2421795	chr4:122282468-122289983	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
34	nsv963991	chr4:122282564-122288754	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	nsv963992	chr4:122282564-122289350	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv3467684	chr4:122284902-122291400	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
37	esv3467685	chr4:122284902-122291400	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
38	nsv595338	chr4:122285263-122288370	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
39	esv3692838	chr4:122285263-122288645	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
40	nsv595339	chr4:122285263-122288645	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
41	nsv595340	chr4:122285263-122288886	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
42	nsv595341	chr4:122285263-122289431	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
43	nsv595342	chr4:122285263-122289863	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
44	nsv528104	chr4:122285263-122291522	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
45	nsv595343	chr4:122285263-122291522	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
46	nsv595345	chr4:122285315-122288886	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
47	nsv595346	chr4:122285417-122288370	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
48	nsv595347	chr4:122285417-122288886	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
49	nsv595348	chr4:122285417-122289863	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
50	nsv595349	chr4:122285480-122288886	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122282200-122294000	Weak transcription	HMEC	breast
2	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122287600-122288400	Enhancers	Left Ventricle	heart

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