Variant report

Variant	rs1456583
Chromosome Location	chr2:40993586-40993587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1003618	0.92[ASN][1000 genomes]
rs10177056	1.00[ASN][1000 genomes]
rs10178374	1.00[ASN][1000 genomes]
rs10178666	0.85[ASN][1000 genomes]
rs10469903	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1119785	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12475258	0.92[ASN][1000 genomes]
rs12478853	0.92[ASN][1000 genomes]
rs12619861	1.00[ASN][1000 genomes]
rs13016243	0.85[ASN][1000 genomes]
rs13395771	0.88[AFR][1000 genomes]
rs13421032	0.88[AFR][1000 genomes]
rs1379037	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456581	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456582	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456588	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456589	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1468799	0.85[ASN][1000 genomes]
rs173799	0.86[ASN][1000 genomes]
rs173802	1.00[ASN][1000 genomes]
rs173803	1.00[ASN][1000 genomes]
rs173805	1.00[ASN][1000 genomes]
rs1840756	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990618	0.85[ASN][1000 genomes]
rs2019379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077825	0.85[ASN][1000 genomes]
rs2192813	0.87[AFR][1000 genomes]
rs2192814	0.87[AFR][1000 genomes]
rs2192815	0.87[AFR][1000 genomes]
rs2216035	0.92[ASN][1000 genomes]
rs2216040	0.85[ASN][1000 genomes]
rs2216042	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373898	0.93[ASN][1000 genomes]
rs2373904	1.00[ASN][1000 genomes]
rs3922281	0.85[ASN][1000 genomes]
rs42784	1.00[ASN][1000 genomes]
rs4539838	1.00[ASN][1000 genomes]
rs4952636	0.85[ASN][1000 genomes]
rs6544354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs6713163	0.92[ASN][1000 genomes]
rs6728651	0.86[ASN][1000 genomes]
rs6753289	0.92[ASN][1000 genomes]
rs67806170	1.00[ASN][1000 genomes]
rs72953433	0.82[AFR][1000 genomes]
rs72953444	0.81[AFR][1000 genomes]
rs72953447	0.81[AFR][1000 genomes]
rs7556714	1.00[ASN][1000 genomes]
rs756376	0.85[ASN][1000 genomes]
rs7564682	1.00[ASN][1000 genomes]
rs7587020	0.92[ASN][1000 genomes]
rs7591373	1.00[ASN][1000 genomes]
rs7591414	1.00[ASN][1000 genomes]
rs7596941	0.85[ASN][1000 genomes]
rs7605586	0.92[ASN][1000 genomes]
rs9677581	0.87[AFR][1000 genomes]
rs993867	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv456441	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581514	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873933	chr2:40989061-41075134	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv962065	chr2:40990227-40994845	Enhancers Weak transcription	Chromatin interactive region lncRNA	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	chr2:40992800-40993600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:40993000-40993600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:40993000-40993800	Enhancers	Fetal Heart	heart

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