Variant report

Variant	rs12052642
Chromosome Location	chr2:173537366-173537367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173534977..173536584-chr2:173536820..173539280,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11902830	0.89[AFR][1000 genomes]
rs12618102	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12622834	0.90[AFR][1000 genomes]
rs16860796	0.89[AFR][1000 genomes]
rs59103702	0.90[AFR][1000 genomes]
rs6716527	0.90[AFR][1000 genomes]
rs6743273	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757567	0.86[AFR][1000 genomes]
rs7590282	0.90[AFR][1000 genomes]
rs836599	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs836639	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173533400-173537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:173536400-173537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:173536400-173537400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:173536400-173537800	Enhancers	Hela-S3	cervix
5	chr2:173536400-173538200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:173536400-173538200	Flanking Active TSS	A549	lung
7	chr2:173536400-173538200	Enhancers	HSMM	muscle
8	chr2:173536400-173538200	Enhancers	NHDF-Ad	bronchial
9	chr2:173536400-173538400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:173536400-173538400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:173536400-173538400	Enhancers	HUVEC	blood vessel
12	chr2:173536400-173538600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:173536400-173538600	Enhancers	NHEK	skin
14	chr2:173536400-173538800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:173536400-173539200	Enhancers	Fetal Intestine Large	intestine
16	chr2:173536400-173539600	Enhancers	Fetal Intestine Small	intestine
17	chr2:173536600-173538600	Enhancers	Osteobl	bone
18	chr2:173536800-173537800	Enhancers	HSMMtube	muscle
19	chr2:173536800-173538200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:173536800-173538800	Enhancers	HMEC	breast
21	chr2:173536800-173539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:173536800-173539400	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:173537000-173537400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:173537000-173538000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:173537000-173538200	Enhancers	NHLF	lung

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