Variant report

Variant	rs4363993
Chromosome Location	chr2:183749847-183749848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10167133	1.00[EUR][1000 genomes]
rs10179513	1.00[EUR][1000 genomes]
rs10189505	1.00[ASN][1000 genomes]
rs1022336	1.00[ASN][1000 genomes]
rs10803962	1.00[ASN][1000 genomes]
rs10931047	1.00[EUR][1000 genomes]
rs10931050	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693330	1.00[ASN][1000 genomes]
rs13021649	1.00[ASN][1000 genomes]
rs2256676	1.00[ASN][1000 genomes]
rs2675047	1.00[ASN][1000 genomes]
rs2675075	1.00[ASN][1000 genomes]
rs2675077	1.00[ASN][1000 genomes]
rs2675091	1.00[ASN][1000 genomes]
rs2675092	1.00[ASN][1000 genomes]
rs2705742	1.00[ASN][1000 genomes]
rs2705744	1.00[ASN][1000 genomes]
rs2705745	1.00[ASN][1000 genomes]
rs2705746	1.00[ASN][1000 genomes]
rs2705750	1.00[ASN][1000 genomes]
rs2705751	1.00[ASN][1000 genomes]
rs2705752	1.00[ASN][1000 genomes]
rs2952357	1.00[ASN][1000 genomes]
rs4233769	1.00[ASN][1000 genomes]
rs4233770	1.00[ASN][1000 genomes]
rs4271733	1.00[ASN][1000 genomes]
rs4292059	1.00[EUR][1000 genomes]
rs4334455	1.00[ASN][1000 genomes]
rs4381749	1.00[ASN][1000 genomes]
rs4591313	1.00[ASN][1000 genomes]
rs4666596	1.00[EUR][1000 genomes]
rs4666601	1.00[ASN][1000 genomes]
rs4666866	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666870	1.00[ASN][1000 genomes]
rs4666872	1.00[ASN][1000 genomes]
rs58475882	1.00[ASN][1000 genomes]
rs6433995	1.00[EUR][1000 genomes]
rs6706591	1.00[ASN][1000 genomes]
rs6720664	1.00[ASN][1000 genomes]
rs6720785	1.00[EUR][1000 genomes]
rs6720804	1.00[ASN][1000 genomes]
rs6742781	1.00[ASN][1000 genomes]
rs6758029	1.00[ASN][1000 genomes]
rs73040077	1.00[EUR][1000 genomes]
rs73040084	1.00[EUR][1000 genomes]
rs73040087	1.00[EUR][1000 genomes]
rs73040097	1.00[EUR][1000 genomes]
rs73040099	1.00[EUR][1000 genomes]
rs73042127	1.00[EUR][1000 genomes]
rs7576281	1.00[ASN][1000 genomes]
rs7592832	1.00[EUR][1000 genomes]
rs9678423	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183748200-183750600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:183748200-183758600	Weak transcription	Pancreas	Pancrea
3	chr2:183748400-183751000	Weak transcription	Right Ventricle	heart
4	chr2:183748800-183751600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:183748800-183758800	Weak transcription	Muscle Satellite Cultured Cells	--

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