Variant report

Variant	rs4671458
Chromosome Location	chr2:63374063-63374064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63373980..63376722-chr2:63378523..63380385,2	K562	blood:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10496101	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs11125949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12466601	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs12471038	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12473894	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12475441	1.00[YRI][hapmap]
rs12478442	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs12612046	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17348207	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs17432663	1.00[YRI][hapmap]
rs17474666	0.94[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs17598689	0.83[GIH][hapmap]
rs17657533	1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[YRI][hapmap]
rs17657580	1.00[ASW][hapmap];0.88[GIH][hapmap];1.00[YRI][hapmap]
rs1829526	0.94[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs4671459	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4671460	0.94[EUR][1000 genomes]
rs4671461	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs72813408	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72813411	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72813412	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72813418	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv470468	chr2:63374063-63449512	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63346600-63399200	Weak transcription	Left Ventricle	heart
2	chr2:63364400-63384800	Weak transcription	Ovary	ovary
3	chr2:63370600-63400600	Weak transcription	Fetal Lung	lung
4	chr2:63371200-63396400	Weak transcription	Gastric	stomach
5	chr2:63372600-63391400	Weak transcription	Aorta	Aorta
6	chr2:63372800-63374400	Weak transcription	Dnd41	blood
7	chr2:63372800-63378200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:63372800-63384000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:63373400-63395600	Weak transcription	Primary B cells from cord blood	blood

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