Variant report

Variant	rs12621674
Chromosome Location	chr2:77226772-77226773
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10177731	0.94[CHB][hapmap]
rs10183094	0.86[CEU][hapmap]
rs10183619	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10183642	0.97[EUR][1000 genomes]
rs10186912	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs10187466	0.80[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10190179	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs10190198	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs10190443	0.88[EUR][1000 genomes]
rs10190510	1.00[CEU][hapmap]
rs10191141	1.00[CHB][hapmap]
rs10192262	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs10193309	1.00[CEU][hapmap]
rs10196630	0.97[EUR][1000 genomes]
rs10196749	0.95[EUR][1000 genomes]
rs10196758	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10196801	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10196895	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10196939	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10198799	0.80[JPT][hapmap]
rs10201530	0.83[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs10520176	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs11126575	0.84[CHB][hapmap]
rs11126576	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs11896560	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs11896587	0.83[EUR][1000 genomes]
rs12987907	0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs12992834	0.91[EUR][1000 genomes]
rs13013784	0.91[EUR][1000 genomes]
rs13385651	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs13385727	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs13385839	1.00[CHB][hapmap]
rs13393238	1.00[CHB][hapmap]
rs13416719	0.87[CHB][hapmap]
rs13422716	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap]
rs13423635	0.84[CHB][hapmap]
rs13427438	0.97[EUR][1000 genomes]
rs13427514	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1345136	0.84[EUR][1000 genomes]
rs1348831	0.88[CEU][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs1374388	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs1374389	0.92[EUR][1000 genomes]
rs1374390	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1446693	0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs1446695	0.82[EUR][1000 genomes]
rs1446697	0.89[EUR][1000 genomes]
rs1446698	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs1446701	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1446702	0.91[EUR][1000 genomes]
rs1446703	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs1446704	0.88[CEU][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs1446705	0.93[EUR][1000 genomes]
rs1446707	0.88[CEU][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs1446710	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1446712	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1446722	0.95[CEU][hapmap]
rs1446724	1.00[CEU][hapmap];0.93[TSI][hapmap]
rs1446725	1.00[CEU][hapmap];0.93[TSI][hapmap]
rs1470503	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1470504	1.00[CEU][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs1470505	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1470506	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1470507	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470508	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1584235	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs1584236	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1584237	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1596913	1.00[CEU][hapmap]
rs17013340	1.00[CHB][hapmap]
rs17013341	0.94[CHB][hapmap]
rs17013455	1.00[CHB][hapmap]
rs17013592	0.88[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs17013595	0.88[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs1838880	0.97[EUR][1000 genomes]
rs1838881	0.97[EUR][1000 genomes]
rs1929452	1.00[CHB][hapmap]
rs1997468	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2028913	0.83[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2044485	0.94[JPT][hapmap]
rs2065375	1.00[CHB][hapmap]
rs2121409	0.89[EUR][1000 genomes]
rs2121410	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2121411	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2178574	1.00[CHB][hapmap]
rs2197603	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs2860872	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2860934	0.89[CHB][hapmap]
rs2860937	0.97[EUR][1000 genomes]
rs2860938	0.94[EUR][1000 genomes]
rs2901812	0.95[EUR][1000 genomes]
rs34372910	0.94[EUR][1000 genomes]
rs34632326	0.92[EUR][1000 genomes]
rs35038238	0.91[EUR][1000 genomes]
rs35659577	0.91[EUR][1000 genomes]
rs4143794	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4143796	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4324338	1.00[CEU][hapmap]
rs4853283	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs4853286	0.93[EUR][1000 genomes]
rs4853287	0.92[EUR][1000 genomes]
rs4853288	0.92[EUR][1000 genomes]
rs4853289	0.92[EUR][1000 genomes]
rs4853291	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs56314043	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547104	0.84[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs6547110	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6547114	0.88[CEU][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs6547115	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs6547116	0.87[EUR][1000 genomes]
rs6547117	0.84[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs6547118	0.88[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs6718391	0.93[EUR][1000 genomes]
rs6718440	0.86[EUR][1000 genomes]
rs6719689	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6732462	0.88[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs6736181	0.84[CHB][hapmap]
rs6739222	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs6743454	0.93[EUR][1000 genomes]
rs6751097	1.00[CHB][hapmap]
rs727000	0.88[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7422204	0.94[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs7561361	0.94[EUR][1000 genomes]
rs7563917	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569624	0.86[EUR][1000 genomes]
rs7570003	0.80[JPT][hapmap]
rs7573982	0.87[CEU][hapmap]
rs7586363	0.88[CHB][hapmap]
rs7591186	0.91[EUR][1000 genomes]
rs7592470	1.00[CHB][hapmap]
rs7592608	1.00[CHB][hapmap]
rs7597923	0.88[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs7601256	0.84[CEU][hapmap]
rs7604936	0.91[EUR][1000 genomes]
rs7605187	0.92[EUR][1000 genomes]
rs765572	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs9309508	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs9309509	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs953854	1.00[CHB][hapmap]
rs992313	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv961764	chr2:77216571-77228053	Enhancers Weak transcription	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	chr2:77224400-77226800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:77225000-77231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:77226600-77227800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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