Variant report

Variant	rs4853668
Chromosome Location	chr2:191002633-191002634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10931444	0.96[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs10931445	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs2262781	0.90[AFR][1000 genomes]
rs4853675	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs4853680	0.88[CHD][hapmap]
rs6748304	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs785255	0.88[CHD][hapmap]
rs785260	0.91[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv9098	chr2:191002496-191002716	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
3	esv3371438	chr2:191002542-191002651	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190991800-191004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:190993200-191004800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190996600-191008200	Weak transcription	Aorta	Aorta
4	chr2:190997000-191006200	Weak transcription	Psoas Muscle	Psoas
5	chr2:190999200-191004000	Weak transcription	Ovary	ovary
6	chr2:191002200-191002800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:191002200-191003000	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:191002200-191003400	Enhancers	Brain Anterior Caudate	brain
9	chr2:191002400-191002800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:191002400-191003200	Enhancers	HSMM	muscle

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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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