Variant report

Variant	rs992976
Chromosome Location	chr1:210066658-210066659
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2143545	0.89[AMR][1000 genomes];0.86[ASN][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210060400-210066800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:210060600-210068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210064200-210066800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:210064400-210068200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:210064400-210068800	Weak transcription	HSMM	muscle
6	chr1:210064600-210068200	Weak transcription	HUVEC	blood vessel
7	chr1:210065200-210066800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:210065200-210067000	Weak transcription	NHDF-Ad	bronchial
9	chr1:210065200-210068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:210065200-210068000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:210065200-210068000	Weak transcription	NH-A	brain
12	chr1:210065200-210068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:210065200-210068200	Weak transcription	Osteobl	bone
14	chr1:210065400-210066800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:210065400-210066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:210065400-210068000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:210065800-210066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:210066000-210067200	Enhancers	HMEC	breast
19	chr1:210066200-210068800	Enhancers	Hela-S3	cervix
20	chr1:210066400-210066800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:210066600-210070800	Enhancers	NHEK	skin

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