Variant report

Variant	rs12083189
Chromosome Location	chr1:94748060-94748061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94741320..94745215-chr1:94746019..94749869,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11165077	1.00[AFR][1000 genomes]
rs11165117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165118	1.00[AMR][1000 genomes]
rs11165119	1.00[AMR][1000 genomes]
rs11165131	1.00[AFR][1000 genomes]
rs12058188	1.00[AMR][1000 genomes]
rs12074537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082460	1.00[AMR][1000 genomes]
rs12084989	1.00[AMR][1000 genomes]
rs12084996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088238	1.00[AMR][1000 genomes]
rs12088515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089307	1.00[AMR][1000 genomes]
rs12092580	1.00[AMR][1000 genomes]
rs12093670	1.00[AMR][1000 genomes]
rs12095472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94734200-94748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:94738400-94750000	Weak transcription	Pancreas	Pancrea
3	chr1:94738400-94750000	Weak transcription	HMEC	breast
4	chr1:94738600-94750200	Weak transcription	Fetal Kidney	kidney
5	chr1:94738800-94750600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94745200-94750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94746200-94748600	Enhancers	Fetal Heart	heart
8	chr1:94746800-94748200	Enhancers	Left Ventricle	heart
9	chr1:94746800-94748600	Enhancers	HepG2	liver
10	chr1:94747200-94750200	Weak transcription	Stomach Mucosa	stomach
11	chr1:94747400-94749200	Weak transcription	Fetal Lung	lung
12	chr1:94747400-94750600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:94747600-94748200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:94747600-94748800	Weak transcription	NHDF-Ad	bronchial
15	chr1:94747600-94749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:94747600-94749800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:94747600-94750000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:94747600-94750000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:94747600-94750000	Weak transcription	HSMM	muscle
20	chr1:94747600-94750000	Weak transcription	NH-A	brain
21	chr1:94747600-94750000	Weak transcription	NHLF	lung
22	chr1:94747600-94750000	Weak transcription	Osteobl	bone
23	chr1:94747800-94748200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:94747800-94749600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:94747800-94749800	Weak transcription	HUVEC	blood vessel
26	chr1:94747800-94750200	Weak transcription	Fetal Stomach	stomach

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