Variant report

Variant	rs968994
Chromosome Location	chr12:63439894-63439895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10877947	1.00[AMR][1000 genomes]
rs1250142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1495030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61654750	1.00[AMR][1000 genomes]
rs699598	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs699620	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327818	1.00[AMR][1000 genomes]
rs771982	1.00[AMR][1000 genomes]
rs771984	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7967943	1.00[AMR][1000 genomes]
rs983981	0.93[AFR][1000 genomes];1.00[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63438400-63440200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:63438400-63440400	Enhancers	NH-A	brain
3	chr12:63438600-63440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:63438800-63440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:63439000-63440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:63439000-63440000	Weak transcription	NHDF-Ad	bronchial
7	chr12:63439000-63441200	Weak transcription	Aorta	Aorta
8	chr12:63439600-63440000	Flanking Active TSS	Osteobl	bone
9	chr12:63439600-63440200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:63439600-63440200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:63439600-63440200	Enhancers	Placenta	Placenta
12	chr12:63439600-63440400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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