Variant report

Variant	rs836643
Chromosome Location	chr2:173531476-173531477
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	chr2:173526170..173528453-chr2:173529190..173532044,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1010752	0.86[ASN][1000 genomes]
rs10930566	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930567	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930568	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1097478	0.81[ASN][1000 genomes]
rs12052531	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464110	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12465512	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465795	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12469378	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12617037	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617921	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12618078	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12618132	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12620518	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12621044	0.95[EUR][1000 genomes]
rs1530864	0.81[ASN][1000 genomes]
rs1530865	0.81[ASN][1000 genomes]
rs1531148	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1531149	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16860693	0.81[ASN][1000 genomes]
rs16860781	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16860789	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2122833	1.00[EUR][1000 genomes]
rs28761282	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59578456	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60127617	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61121406	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61505737	0.81[ASN][1000 genomes]
rs6709144	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718681	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6719140	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6733671	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs70937083	0.81[ASN][1000 genomes]
rs70937084	0.81[ASN][1000 genomes]
rs836608	0.83[ASN][1000 genomes]
rs836614	0.83[ASN][1000 genomes]
rs836616	0.83[ASN][1000 genomes]
rs836617	0.83[ASN][1000 genomes]
rs836628	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173521400-173536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:173522800-173532200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:173530400-173532000	Weak transcription	NHDF-Ad	bronchial
4	chr2:173530400-173536400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:173530600-173536400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:173530800-173536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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