Variant report

Variant	rs10930806
Chromosome Location	chr2:178599218-178599219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178579061..178582012-chr2:178598447..178601260,2	K562	blood:
2	chr2:178589973..178591611-chr2:178597442..178599800,2	MCF-7	breast:
3	chr2:178598484..178600375-chr2:178617502..178619853,2	MCF-7	breast:
4	chr2:178597588..178600466-chr2:178601203..178603496,2	K562	blood:
5	chr2:178593855..178595985-chr2:178597094..178599807,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10497488	0.92[ASN][1000 genomes]
rs10497489	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684634	0.96[EUR][1000 genomes]
rs12987101	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12989020	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13012431	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13031632	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344916	0.97[EUR][1000 genomes]
rs1344917	0.96[EUR][1000 genomes]
rs1344925	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370655	0.84[ASN][1000 genomes]
rs1438037	0.97[EUR][1000 genomes]
rs1438038	0.98[EUR][1000 genomes]
rs1438039	0.98[EUR][1000 genomes]
rs1438048	0.94[EUR][1000 genomes]
rs1561319	0.98[EUR][1000 genomes]
rs1561320	0.95[EUR][1000 genomes]
rs16865726	0.98[EUR][1000 genomes]
rs16865769	0.92[ASN][1000 genomes]
rs17400512	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1866208	0.97[EUR][1000 genomes]
rs1866209	0.97[EUR][1000 genomes]
rs1866210	0.97[EUR][1000 genomes]
rs1866211	0.96[EUR][1000 genomes]
rs1866212	0.96[EUR][1000 genomes]
rs1975323	0.93[EUR][1000 genomes]
rs1975324	0.97[EUR][1000 genomes]
rs2164857	0.96[EUR][1000 genomes]
rs2365889	0.98[EUR][1000 genomes]
rs28707296	0.93[EUR][1000 genomes]
rs2886498	0.98[EUR][1000 genomes]
rs34952652	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754993	0.96[EUR][1000 genomes]
rs3754994	0.96[EUR][1000 genomes]
rs3770028	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770034	0.98[EUR][1000 genomes]
rs3770042	0.97[EUR][1000 genomes]
rs3770043	0.90[ASN][1000 genomes]
rs4893839	0.97[EUR][1000 genomes]
rs4893840	0.97[EUR][1000 genomes]
rs57427125	0.92[ASN][1000 genomes]
rs57877880	0.92[ASN][1000 genomes]
rs58408943	0.92[ASN][1000 genomes]
rs59657949	0.84[ASN][1000 genomes]
rs60748325	0.92[ASN][1000 genomes]
rs62183005	0.92[ASN][1000 genomes]
rs62183040	0.88[ASN][1000 genomes]
rs6433693	0.98[EUR][1000 genomes]
rs6756240	0.97[EUR][1000 genomes]
rs73030327	0.92[ASN][1000 genomes]
rs73030354	0.92[ASN][1000 genomes]
rs749207	0.97[EUR][1000 genomes]
rs749208	0.96[EUR][1000 genomes]
rs934798	0.84[ASN][1000 genomes]
rs998059	0.97[EUR][1000 genomes]
rs998060	0.97[EUR][1000 genomes]
rs998061	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178594000-178605600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:178597800-178610200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:178598400-178603200	Weak transcription	Ovary	ovary
4	chr2:178599200-178604600	Weak transcription	Fetal Kidney	kidney

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