Variant report

Variant	rs12988557
Chromosome Location	chr2:77226087-77226088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10165789	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10175781	0.85[GIH][hapmap]
rs10183312	0.96[EUR][1000 genomes]
rs10187924	0.96[ASN][1000 genomes]
rs10193253	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs10194816	0.96[ASN][1000 genomes]
rs10195940	0.84[CEU][hapmap]
rs10198223	0.96[EUR][1000 genomes]
rs10199630	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs10201531	0.84[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs10204605	0.85[GIH][hapmap];0.88[TSI][hapmap]
rs10205089	0.84[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs10205987	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520170	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11884377	0.85[GIH][hapmap];0.88[TSI][hapmap]
rs11885408	0.84[CEU][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11886263	0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.96[ASN][1000 genomes]
rs12713885	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs13007111	0.96[ASN][1000 genomes]
rs13016203	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13025838	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13414920	0.82[CEU][hapmap];0.86[ASN][1000 genomes]
rs1446711	0.83[EUR][1000 genomes]
rs1446728	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs17013381	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17013387	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17013449	0.84[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17333446	1.00[ASW][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[TSI][hapmap]
rs17334184	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs17405232	0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1947115	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1947116	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982340	1.00[ASW][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs34256194	0.92[ASN][1000 genomes]
rs35573263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4852420	1.00[JPT][hapmap]
rs4852421	0.96[ASN][1000 genomes]
rs4852423	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7355718	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[ASN][1000 genomes]
rs7583560	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7607753	0.91[JPT][hapmap]
rs9973564	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973567	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77224200-77226600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:77224400-77226800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:77225000-77231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:77225600-77226400	Enhancers	Hela-S3	cervix

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