Variant report

Variant	rs12562374
Chromosome Location	chr1:56440753-56440754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11206696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11206701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12021564	1.00[AFR][1000 genomes]
rs12026559	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12036133	0.96[AMR][1000 genomes]
rs12037326	0.96[AMR][1000 genomes]
rs12037328	0.96[AMR][1000 genomes]
rs12037782	0.96[AMR][1000 genomes]
rs12040812	0.96[AMR][1000 genomes]
rs12047844	0.96[AMR][1000 genomes]
rs2404390	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34702909	0.80[AMR][1000 genomes]
rs56902790	0.96[AMR][1000 genomes]
rs57468354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs58323289	0.96[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870513	chr1:56407227-56493106	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1003385	chr1:56430742-56468732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr1:56425800-56441000	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:56437600-56441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56438200-56441000	Weak transcription	Aorta	Aorta
4	chr1:56438200-56441600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56439000-56441400	Enhancers	NHLF	lung
6	chr1:56439200-56441400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:56439600-56441200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:56439600-56441400	Enhancers	HSMM	muscle
9	chr1:56439600-56441600	Enhancers	HSMMtube	muscle
10	chr1:56439800-56440800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:56439800-56441000	Enhancers	Colon Smooth Muscle	Colon
12	chr1:56439800-56441000	Enhancers	Osteobl	bone
13	chr1:56439800-56441200	Enhancers	Adipose Nuclei	Adipose
14	chr1:56439800-56441200	Enhancers	Fetal Stomach	stomach
15	chr1:56439800-56441200	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:56439800-56441400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:56440000-56440800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:56440000-56441400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:56440000-56441400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:56440000-56441400	Enhancers	Hela-S3	cervix
21	chr1:56440000-56451400	Weak transcription	Ovary	ovary
22	chr1:56440400-56441200	Enhancers	NH-A	brain
23	chr1:56440400-56441600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:56440400-56441600	Enhancers	NHDF-Ad	bronchial
25	chr1:56440600-56441400	Enhancers	Fetal Lung	lung

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