Variant report

Variant	rs10803989
Chromosome Location	chr2:186554522-186554523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10084180	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10166087	0.96[AMR][1000 genomes]
rs10166573	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10168492	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10176556	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10179757	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10186680	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10190831	0.81[ASN][1000 genomes]
rs10192344	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10195783	1.00[EUR][1000 genomes]
rs10202092	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10202773	0.81[ASN][1000 genomes]
rs10221663	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10221794	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10803986	1.00[EUR][1000 genomes]
rs10803987	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931179	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10931199	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1116602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673741	1.00[EUR][1000 genomes]
rs11887570	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900568	1.00[EUR][1000 genomes]
rs11903586	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12468005	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12620350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020956	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13386652	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13391326	0.85[AMR][1000 genomes]
rs13398117	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13411162	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13424121	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13425377	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13428759	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13428998	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1345933	1.00[EUR][1000 genomes]
rs1424525	1.00[EUR][1000 genomes]
rs1424526	1.00[EUR][1000 genomes]
rs1424527	1.00[EUR][1000 genomes]
rs1468999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1477455	1.00[EUR][1000 genomes]
rs1601727	0.81[ASN][1000 genomes]
rs2193614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193820	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2194508	0.91[EUR][1000 genomes]
rs2370391	1.00[EUR][1000 genomes]
rs2370469	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2370472	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265972	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4499391	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575687	1.00[EUR][1000 genomes]
rs4667053	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6434142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6706525	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713566	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6761586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7567961	1.00[EUR][1000 genomes]
rs7576532	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7576818	1.00[EUR][1000 genomes]
rs7592234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7602278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607020	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs763329	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991327	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1000561	chr2:186450293-186556017	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	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
8	nsv1004422	chr2:186463915-186556017	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv1011628	chr2:186523096-186594343	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1003484	chr2:186524793-186591557	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1003603	chr2:186524793-186594343	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2751838	chr2:186531835-186591557	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv584022	chr2:186531835-186591557	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv1010456	chr2:186531835-186594343	Enhancers Weak transcription	Chromatin interactive region lncRNA	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	chr2:186554000-186555400	Enhancers	HMEC	breast
2	chr2:186554400-186555400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:186554400-186555400	Enhancers	Muscle Satellite Cultured Cells	--

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