Variant report

Variant	rs1022757
Chromosome Location	chr20:15137154-15137155
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11087123	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs11908639	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs13045366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1620686	0.93[ASN][1000 genomes]
rs1629825	0.92[ASN][1000 genomes]
rs1630658	0.93[ASN][1000 genomes]
rs1657969	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1734913	0.93[ASN][1000 genomes]
rs1734914	0.92[ASN][1000 genomes]
rs1734915	0.93[ASN][1000 genomes]
rs1734916	0.90[ASN][1000 genomes]
rs1734917	0.92[ASN][1000 genomes]
rs1734918	0.84[ASN][1000 genomes]
rs1743471	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs1743472	0.86[JPT][hapmap]
rs1743473	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs1743475	0.86[JPT][hapmap]
rs1743476	0.90[ASN][1000 genomes]
rs17700500	0.92[YRI][hapmap]
rs1967749	0.86[ASN][1000 genomes]
rs199294	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs199295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs199296	0.97[ASN][1000 genomes]
rs368368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs369438	0.93[ASN][1000 genomes]
rs372586	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs377708	0.97[ASN][1000 genomes]
rs378059	0.97[ASN][1000 genomes]
rs381723	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs382050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs389281	0.85[ASN][1000 genomes]
rs391454	0.93[ASN][1000 genomes]
rs392143	0.93[ASN][1000 genomes]
rs392189	0.93[ASN][1000 genomes]
rs393367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs398847	0.97[ASN][1000 genomes]
rs403365	0.93[ASN][1000 genomes]
rs403949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs409678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs410068	0.82[JPT][hapmap]
rs411668	0.97[ASN][1000 genomes]
rs411901	0.97[ASN][1000 genomes]
rs412032	0.93[ASN][1000 genomes]
rs412837	0.93[ASN][1000 genomes]
rs420216	0.93[ASN][1000 genomes]
rs420651	0.93[ASN][1000 genomes]
rs421292	0.82[JPT][hapmap]
rs431713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs432033	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs432763	0.97[ASN][1000 genomes]
rs4340602	0.86[JPT][hapmap]
rs439381	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs440313	0.92[ASN][1000 genomes]
rs443355	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs443742	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs444687	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs444709	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs444907	0.93[ASN][1000 genomes]
rs445251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs448432	0.93[ASN][1000 genomes]
rs453600	0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs455205	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs456646	0.93[ASN][1000 genomes]
rs457862	0.93[ASN][1000 genomes]
rs458376	0.93[ASN][1000 genomes]
rs459322	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs459752	0.93[ASN][1000 genomes]
rs459800	0.88[ASN][1000 genomes]
rs459874	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4610131	0.81[CHD][hapmap]
rs461300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs461614	0.97[ASN][1000 genomes]
rs462824	0.97[ASN][1000 genomes]
rs463251	0.97[ASN][1000 genomes]
rs465330	0.81[ASN][1000 genomes]
rs465491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs466680	0.97[ASN][1000 genomes]
rs467252	0.93[ASN][1000 genomes]
rs467455	0.93[ASN][1000 genomes]
rs6034110	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6079677	0.89[ASN][1000 genomes]
rs6079678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6079679	0.84[ASN][1000 genomes]
rs6079680	0.84[ASN][1000 genomes]
rs6110526	0.86[JPT][hapmap]
rs6110528	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs6110529	0.90[JPT][hapmap]
rs6110532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6110533	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs799170	0.97[ASN][1000 genomes]
rs799171	0.97[ASN][1000 genomes]
rs799172	0.97[ASN][1000 genomes]
rs808924	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs970005	0.84[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066070	chr20:14627662-15180181	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948395	chr20:14667415-15161670	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv585488	chr20:14764611-15150730	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1065152	chr20:14781684-15305258	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv912754	chr20:14817453-15170958	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1057120	chr20:14837251-15166775	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv931936	chr20:14838217-15154763	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv912767	chr20:14854935-15189598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv585540	chr20:14858910-15242365	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1066220	chr20:14883338-15204628	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv912774	chr20:14901776-15177309	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1057548	chr20:14910001-15172302	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1060571	chr20:14924247-15139048	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv868936	chr20:14928568-15183054	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1058717	chr20:14932884-15137154	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv912777	chr20:14936935-15141959	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1063917	chr20:14939608-15206129	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv912778	chr20:14949763-15207464	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv1062252	chr20:14964258-15547739	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv544206	chr20:14964258-15547739	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv932106	chr20:14964459-15203333	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv912780	chr20:14967506-15139048	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv1058314	chr20:14978835-15149030	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv1060511	chr20:14982565-15157970	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv524481	chr20:15007730-15382919	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv916795	chr20:15041479-15345528	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv1062960	chr20:15045757-15204628	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1055526	chr20:15049686-15138803	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1065611	chr20:15049686-15179481	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv1065831	chr20:15052434-15144763	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1064739	chr20:15052434-15154575	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1063637	chr20:15052434-15154706	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv2763667	chr20:15052446-15170143	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv585569	chr20:15052514-15141004	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv516721	chr20:15052514-15143806	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv585570	chr20:15052514-15143806	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv458924	chr20:15054436-15143806	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv458925	chr20:15054436-15143806	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv585571	chr20:15054436-15143806	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv585572	chr20:15057510-15143806	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
41	nsv458926	chr20:15058029-15147150	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
42	nsv585573	chr20:15058029-15147150	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
43	nsv458927	chr20:15063679-15143806	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
44	nsv585574	chr20:15063679-15143806	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
45	nsv1057455	chr20:15069821-15198608	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
46	nsv585576	chr20:15083626-15141959	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
47	nsv1060275	chr20:15084485-15327541	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
48	nsv526767	chr20:15086277-15223632	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
49	nsv3301	chr20:15107532-15141567	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
50	nsv458930	chr20:15110426-15141004	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15134400-15138000	Enhancers	HMEC	breast
2	chr20:15134600-15137400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:15134600-15137400	Enhancers	Dnd41	blood
4	chr20:15134600-15137400	Enhancers	NHEK	skin
5	chr20:15134800-15137400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:15136200-15137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:15136800-15142800	Weak transcription	Primary T cells from cord blood	blood

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