Variant report

Variant	rs12612958
Chromosome Location	chr2:211998488-211998489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10174373	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10201265	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804189	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10932367	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11681093	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11694662	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12151374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618320	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12619728	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622440	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009135	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1437372	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1437929	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469928	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17737553	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837054	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1837055	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2164839	0.81[AMR][1000 genomes]
rs2887949	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35259140	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35652091	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35885433	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36018701	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62179762	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179779	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6435600	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6726901	0.86[ASN][1000 genomes]
rs6744625	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7421089	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7595005	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7608912	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834521	chr2:211918881-212057872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875773	chr2:211973600-212041403	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
2	chr2:211996400-211998800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:211996400-211998800	Enhancers	HSMM	muscle
4	chr2:211996600-211998800	Enhancers	NH-A	brain
5	chr2:211996800-211998800	Enhancers	HMEC	breast
6	chr2:211996800-211998800	Enhancers	HUVEC	blood vessel
7	chr2:211996800-211999000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:211996800-211999000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:211997000-211998800	Enhancers	HSMMtube	muscle
10	chr2:211997000-211998800	Enhancers	NHEK	skin
11	chr2:211997000-211998800	Enhancers	Osteobl	bone
12	chr2:211997400-211998800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:211997400-211998800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:211997600-211998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:211998200-211998800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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