Variant report

Variant	rs1995514
Chromosome Location	chr12:60789609-60789610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11173405	0.85[ASN][1000 genomes]
rs11173407	0.82[ASN][1000 genomes]
rs11173414	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11173416	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11173437	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11173438	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11173439	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1119988	0.91[EUR][1000 genomes]
rs11536139	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12228227	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12228889	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12231371	0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12580142	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12580151	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1394328	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1394330	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1504460	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1532811	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1604867	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1604868	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1604869	0.84[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17606011	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17606158	0.82[ASN][1000 genomes]
rs17606266	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17606387	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17606458	0.92[ASN][1000 genomes]
rs17669416	0.81[ASN][1000 genomes]
rs1875860	0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs2102258	0.81[JPT][hapmap];0.80[AMR][1000 genomes]
rs2363585	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363587	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2655871	0.91[EUR][1000 genomes]
rs2731465	0.91[EUR][1000 genomes]
rs4353306	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4583008	0.80[AMR][1000 genomes]
rs4616072	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4758863	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55810124	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56088032	0.82[ASN][1000 genomes]
rs56173629	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60798845	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6581318	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7307028	0.93[ASN][1000 genomes]
rs7961791	0.80[AMR][1000 genomes]
rs7971161	0.80[AMR][1000 genomes]
rs7972668	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047466	chr12:60702221-61521156	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3351746	chr12:60788685-60793483	Enhancers Weak transcription	Chromatin interactive region	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	chr12:60787800-60789800	Enhancers	Hela-S3	cervix
2	chr12:60788000-60789800	Enhancers	NHEK	skin
3	chr12:60788200-60789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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