Variant report

Variant	rs12137826
Chromosome Location	chr1:215075343-215075344
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	chr1:215071826..215073413-chr1:215073574..215076518,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10864140	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120443	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071211	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117161	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125537	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023849	1.00[ASN][1000 genomes]
rs17601260	1.00[ASN][1000 genomes]
rs2601653	1.00[ASN][1000 genomes]
rs478014	1.00[ASN][1000 genomes]
rs486282	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498942	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502241	1.00[ASN][1000 genomes]
rs6690671	1.00[ASN][1000 genomes]
rs73076218	1.00[ASN][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	nsv873167	chr1:214950361-215116947	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215072200-215076800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215072800-215077000	Enhancers	NHDF-Ad	bronchial
3	chr1:215072800-215077000	Enhancers	Osteobl	bone
4	chr1:215073200-215075800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:215073400-215075400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:215073400-215076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:215073400-215077000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:215073600-215076800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:215073600-215077000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:215073600-215077000	Enhancers	HMEC	breast
11	chr1:215074000-215077000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:215074000-215077000	Enhancers	NHEK	skin
13	chr1:215074400-215077000	Enhancers	NHLF	lung
14	chr1:215074600-215077000	Enhancers	HUVEC	blood vessel
15	chr1:215074800-215075400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:215074800-215075600	Flanking Active TSS	A549	lung
17	chr1:215074800-215076400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:215074800-215076600	Enhancers	HSMM	muscle
19	chr1:215074800-215076800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:215074800-215076800	Enhancers	Hela-S3	cervix
21	chr1:215074800-215077000	Enhancers	NH-A	brain
22	chr1:215075000-215075400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:215075000-215075400	Enhancers	K562	blood
24	chr1:215075200-215075400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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