Variant report

Variant	rs11889713
Chromosome Location	chr2:189061132-189061133
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:10)

rs_ID	r²[population]
rs11885677	1.00[AFR][1000 genomes]
rs11886352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887981	1.00[AMR][1000 genomes]
rs11888647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889601	1.00[AMR][1000 genomes]
rs11894555	1.00[AMR][1000 genomes]
rs11894874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898681	1.00[AMR][1000 genomes]
rs11904330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043768	1.00[AMR][1000 genomes]

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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr2:189046200-189061200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:189054400-189063600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:189058400-189061200	Weak transcription	NH-A	brain
4	chr2:189058600-189064000	Weak transcription	NHEK	skin
5	chr2:189058600-189064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:189058800-189061200	Weak transcription	HMEC	breast
7	chr2:189060800-189061200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:189061000-189061200	Enhancers	Adipose Nuclei	Adipose
9	chr2:189061000-189061600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:189061000-189061600	Enhancers	Brain Anterior Caudate	brain
11	chr2:189061000-189061600	Enhancers	Osteobl	bone
12	chr2:189061000-189061800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:189061000-189062000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189061000-189062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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