Variant report

Variant	rs10930814
Chromosome Location	chr2:178706487-178706488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178702452..178704995-chr2:178705681..178708457,3	MCF-7	breast:
2	chr2:178702819..178704367-chr2:178705919..178708336,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11695211	0.82[CHD][hapmap];0.87[JPT][hapmap];0.80[MKK][hapmap]
rs12463866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12469439	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs1344923	1.00[LWK][hapmap]
rs1369519	0.81[EUR][1000 genomes]
rs1369520	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1370659	0.82[AFR][1000 genomes]
rs1405643	0.96[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs1405644	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs1405645	0.86[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.80[MKK][hapmap]
rs1405646	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1435575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1438040	0.91[MEX][hapmap]
rs1438059	0.82[AFR][1000 genomes]
rs1534290	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs16865995	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs1880915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs2020213	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2037757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099476	0.96[CEU][hapmap];0.90[JPT][hapmap]
rs2217839	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2252726	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs2573080	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2573083	0.82[CHB][hapmap]
rs2573085	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs2573088	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2695094	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2695103	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2695104	0.81[EUR][1000 genomes]
rs2695111	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695112	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2695735	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs2695738	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695743	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs2695744	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2695746	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2695747	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2695750	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2695752	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2695754	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3108453	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3108476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770051	1.00[CEU][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6433705	0.81[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs6743194	0.96[CEU][hapmap]
rs6745288	0.87[JPT][hapmap]
rs6753870	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573622	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs7604345	0.82[JPT][hapmap]
rs934807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959792	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs966433	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583690	chr2:178638381-178712283	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv3053	chr2:178690640-178735132	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3416165	chr2:178706469-178706582	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178699800-178716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:178704000-178709000	Weak transcription	Pancreas	Pancrea

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