Variant report

Variant	rs74059937
Chromosome Location	chr12:8782848-8782849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1561556	1.00[AMR][1000 genomes]
rs56093748	0.86[AFR][1000 genomes]
rs58803329	0.96[AFR][1000 genomes]
rs59266075	1.00[AMR][1000 genomes]
rs60389447	0.86[AFR][1000 genomes]
rs74059934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059938	0.80[AFR][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	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8780600-8783200	Enhancers	GM12878-XiMat	blood
2	chr12:8780800-8783000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:8781000-8783400	Enhancers	HSMMtube	muscle
4	chr12:8781200-8783000	Enhancers	Osteobl	bone
5	chr12:8781200-8783200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:8781400-8783000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:8781400-8783000	Enhancers	HSMM	muscle
8	chr12:8781400-8783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:8781600-8783000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:8782600-8783000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:8782600-8783000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:8782600-8787600	Weak transcription	NHEK	skin
13	chr12:8782800-8787800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:8782800-8788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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