Variant report

Variant	rs10803992
Chromosome Location	chr2:186566024-186566025
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10165430	0.87[EUR][1000 genomes]
rs10185794	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10188730	0.85[EUR][1000 genomes]
rs10196025	0.81[ASN][1000 genomes]
rs10199557	0.80[ASN][1000 genomes]
rs10206949	0.81[ASN][1000 genomes]
rs10210704	0.80[ASN][1000 genomes]
rs10803993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10931188	0.88[ASN][1000 genomes]
rs1116941	0.87[ASN][1000 genomes]
rs11688628	0.82[EUR][1000 genomes]
rs11696052	0.87[EUR][1000 genomes]
rs11886336	0.93[ASN][1000 genomes]
rs11893212	0.83[EUR][1000 genomes]
rs12105970	0.85[ASN][1000 genomes]
rs12464911	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475752	0.89[ASN][1000 genomes]
rs12475908	0.83[ASN][1000 genomes]
rs12988839	0.87[ASN][1000 genomes]
rs12992042	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12999848	0.89[ASN][1000 genomes]
rs13393941	0.81[ASN][1000 genomes]
rs1468956	0.86[ASN][1000 genomes]
rs16826958	0.93[ASN][1000 genomes]
rs16827054	0.81[EUR][1000 genomes]
rs16827102	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs16827202	0.87[EUR][1000 genomes]
rs2111711	0.85[ASN][1000 genomes]
rs2193821	0.87[EUR][1000 genomes]
rs2216402	0.88[ASN][1000 genomes]
rs2887742	0.84[ASN][1000 genomes]
rs2887762	0.81[CHB][hapmap]
rs36035600	0.87[ASN][1000 genomes]
rs36114949	0.82[ASN][1000 genomes]
rs3821022	0.81[EUR][1000 genomes]
rs4233785	0.84[ASN][1000 genomes]
rs4300794	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4334457	0.81[EUR][1000 genomes]
rs4377305	0.81[ASN][1000 genomes]
rs4473352	0.86[EUR][1000 genomes]
rs4549042	0.81[ASN][1000 genomes]
rs4666688	0.85[ASN][1000 genomes]
rs4667042	0.85[EUR][1000 genomes]
rs4667044	0.83[ASN][1000 genomes]
rs4667045	0.84[ASN][1000 genomes]
rs4667047	0.88[ASN][1000 genomes]
rs4667051	0.89[ASN][1000 genomes]
rs58762332	0.83[EUR][1000 genomes]
rs6434131	0.82[EUR][1000 genomes]
rs6434134	0.85[ASN][1000 genomes]
rs6434137	0.84[ASN][1000 genomes]
rs6725306	0.84[ASN][1000 genomes]
rs6725553	0.84[ASN][1000 genomes]
rs6729201	0.91[ASN][1000 genomes]
rs6737269	0.83[ASN][1000 genomes]
rs6745292	0.84[ASN][1000 genomes]
rs6749577	0.93[ASN][1000 genomes]
rs6749812	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753011	0.85[ASN][1000 genomes]
rs6758929	0.81[EUR][1000 genomes]
rs72898038	0.92[EUR][1000 genomes]
rs73035511	0.81[EUR][1000 genomes]
rs7560513	0.84[ASN][1000 genomes]
rs7577283	0.85[EUR][1000 genomes]
rs7577958	0.84[ASN][1000 genomes]
rs7591127	0.85[EUR][1000 genomes]
rs7592890	0.83[ASW][hapmap]
rs7593254	0.84[ASN][1000 genomes]
rs759686	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759687	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604780	0.87[EUR][1000 genomes]
rs7605519	0.81[EUR][1000 genomes]
rs763330	0.86[ASN][1000 genomes]
rs984988	0.84[ASN][1000 genomes]
rs988937	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875540	chr2:186345148-186583961	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875541	chr2:186345148-186598526	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv584018	chr2:186352959-186598526	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1011628	chr2:186523096-186594343	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1003484	chr2:186524793-186591557	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1003603	chr2:186524793-186594343	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv2751838	chr2:186531835-186591557	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv584022	chr2:186531835-186591557	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1010456	chr2:186531835-186594343	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3414312	chr2:186564235-186579049	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10803992	AC007966.1	cis	Nerve Tibial	GTEx
rs10803992	AC007966.1	cis	Esophagus Muscularis	GTEx
rs10803992	AC007966.1	cis	Skin Sun Exposed Lower leg	GTEx
rs10803992	AC007966.1	cis	Heart Left Ventricle	GTEx
rs10803992	AC007966.1	cis	lung	GTEx
rs10803992	AC007966.1	cis	Thyroid	GTEx
rs10803992	AC007966.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186565600-186566200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:186565600-186603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links