Variant report

Variant	rs12622125
Chromosome Location	chr2:178580906-178580907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178406208..178409033-chr2:178580578..178582428,2	K562	blood:
2	chr2:178573812..178575590-chr2:178578150..178581099,2	K562	blood:
3	chr2:178579061..178582012-chr2:178598447..178601260,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1004541	0.82[CHB][hapmap]
rs10175364	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192481	0.84[CHB][hapmap]
rs10201180	0.82[CHB][hapmap]
rs10497488	1.00[JPT][hapmap]
rs10497489	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10930805	0.84[CHB][hapmap]
rs11684634	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs13428806	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1344916	0.91[ASN][1000 genomes]
rs1344917	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1344925	1.00[JPT][hapmap]
rs1347731	0.84[CHB][hapmap]
rs1370655	1.00[JPT][hapmap]
rs1370662	0.82[CHB][hapmap]
rs1370663	0.82[CHB][hapmap]
rs1370664	0.84[CHB][hapmap]
rs1438037	0.91[ASN][1000 genomes]
rs1438038	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs1438039	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1438048	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1469973	0.82[CHB][hapmap]
rs1561319	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1561320	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs16865726	0.91[ASN][1000 genomes]
rs16865764	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16865769	1.00[JPT][hapmap]
rs16865791	0.85[JPT][hapmap]
rs1866208	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1866209	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1866210	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1866211	0.91[ASN][1000 genomes]
rs1866212	0.91[ASN][1000 genomes]
rs1898586	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1946812	0.85[JPT][hapmap]
rs1975321	0.82[CHB][hapmap]
rs1975324	0.91[ASN][1000 genomes]
rs2164857	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2365889	0.91[ASN][1000 genomes]
rs28700947	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886498	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs3754991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754993	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs3754994	0.91[ASN][1000 genomes]
rs3770023	0.82[CHB][hapmap]
rs3770028	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3770034	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs3770042	0.91[ASN][1000 genomes]
rs3770043	1.00[JPT][hapmap]
rs3770047	0.85[JPT][hapmap]
rs3821007	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3821009	0.85[JPT][hapmap]
rs4893839	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4893840	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4893980	0.82[CHB][hapmap]
rs4893981	0.84[CHB][hapmap]
rs4893984	0.82[CHB][hapmap]
rs4893985	0.82[CHB][hapmap]
rs4893987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56362604	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57242051	0.89[ASN][1000 genomes]
rs61334857	0.89[ASN][1000 genomes]
rs6433693	0.91[ASN][1000 genomes]
rs6704720	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6718702	0.84[CHB][hapmap]
rs6756240	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs749207	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs749208	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7562835	1.00[JPT][hapmap]
rs7567851	0.85[JPT][hapmap]
rs7596360	0.84[CHB][hapmap]
rs934798	1.00[JPT][hapmap]
rs934809	0.84[CHB][hapmap]
rs998059	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs998060	0.91[ASN][1000 genomes]
rs998061	0.91[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv870023	chr2:178545623-178581407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1005854	chr2:178546907-178586608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178579400-178581000	Enhancers	Brain Hippocampus Middle	brain
2	chr2:178579600-178581200	Enhancers	Brain Substantia Nigra	brain
3	chr2:178580800-178581000	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:178580800-178581000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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