Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10930566	1.00[EUR][1000 genomes]
rs10930567	1.00[EUR][1000 genomes]
rs10930568	1.00[EUR][1000 genomes]
rs12052531	0.95[EUR][1000 genomes]
rs12464110	0.95[EUR][1000 genomes]
rs12465512	0.98[EUR][1000 genomes]
rs12465795	0.95[EUR][1000 genomes]
rs12469378	0.95[EUR][1000 genomes]
rs12617037	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12617921	0.88[EUR][1000 genomes]
rs12618078	0.90[EUR][1000 genomes]
rs12618132	0.90[EUR][1000 genomes]
rs12620518	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12621044	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1531148	1.00[EUR][1000 genomes]
rs1531149	1.00[EUR][1000 genomes]
rs16860781	1.00[EUR][1000 genomes]
rs16860789	1.00[EUR][1000 genomes]
rs2357637	0.82[ASN][1000 genomes]
rs28761282	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59578456	0.95[EUR][1000 genomes]
rs60127617	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61121406	1.00[EUR][1000 genomes]
rs6709144	0.95[EUR][1000 genomes]
rs6718681	1.00[EUR][1000 genomes]
rs6719140	1.00[EUR][1000 genomes]
rs6733671	0.93[EUR][1000 genomes]
rs836643	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
2	chr2:173509200-173519400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:173511200-173512800	Enhancers	NHDF-Ad	bronchial
4	chr2:173511200-173513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:173511600-173512800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:173511800-173512600	Enhancers	HMEC	breast
7	chr2:173511800-173512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:173511800-173512800	Enhancers	NH-A	brain
9	chr2:173511800-173513000	Enhancers	HUVEC	blood vessel
10	chr2:173511800-173513000	Enhancers	NHLF	lung
11	chr2:173511800-173513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:173512000-173512600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:173512000-173512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173512000-173512800	Enhancers	HSMM	muscle
15	chr2:173512000-173512800	Enhancers	NHEK	skin

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