Variant report

Variant	rs12990799
Chromosome Location	chr2:125358226-125358227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10165603	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10194805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10195187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10202736	0.83[GIH][hapmap]
rs11123053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11123056	0.85[CEU][hapmap]
rs11674701	0.81[GIH][hapmap]
rs11676952	0.85[CEU][hapmap]
rs11681388	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12466900	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12468779	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs12470391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12477053	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1454133	0.87[GIH][hapmap]
rs1504015	0.82[GIH][hapmap]
rs1504022	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1504023	0.83[GIH][hapmap]
rs1587789	0.83[GIH][hapmap]
rs1847432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1902004	0.87[GIH][hapmap]
rs1910528	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2047874	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs4848249	0.82[ASW][hapmap];0.87[GIH][hapmap]
rs4848250	0.82[ASW][hapmap];0.87[GIH][hapmap]
rs4848252	0.82[CEU][hapmap]
rs4848950	0.83[GIH][hapmap]
rs6541966	0.83[GIH][hapmap]
rs6712020	0.81[GIH][hapmap]
rs6721614	0.81[GIH][hapmap]
rs6737833	0.83[MEX][hapmap]
rs6750396	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558706	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7560341	0.83[GIH][hapmap]
rs7578835	0.81[JPT][hapmap]
rs7584599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7591540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs924802	0.83[GIH][hapmap]
rs963190	0.87[GIH][hapmap]
rs9646915	0.83[GIH][hapmap]
rs9646916	0.83[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv528674	chr2:125346337-125383522	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125358000-125358400	Enhancers	HUES6 Cell Line	embryonic stem cell

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