Variant report

Variant	rs1439890
Chromosome Location	chr2:189065132-189065133
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10177792	1.00[AFR][1000 genomes]
rs10221704	0.94[AFR][1000 genomes]
rs10221866	0.94[AFR][1000 genomes]
rs1036650	0.94[AFR][1000 genomes]
rs11675697	1.00[AFR][1000 genomes]
rs13396118	0.87[AFR][1000 genomes]
rs1439899	1.00[AFR][1000 genomes]
rs1439908	1.00[AFR][1000 genomes]
rs1821996	0.88[AFR][1000 genomes]
rs4261683	1.00[AFR][1000 genomes]
rs6706840	1.00[AFR][1000 genomes]
rs6713266	0.83[AFR][1000 genomes]
rs6757116	1.00[AFR][1000 genomes]
rs7591267	0.94[AFR][1000 genomes]
rs7597147	1.00[AFR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189061600-189067400	Weak transcription	Ovary	ovary
2	chr2:189061800-189069200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189063600-189065200	Enhancers	Osteobl	bone
4	chr2:189063600-189065800	Enhancers	HMEC	breast
5	chr2:189063800-189065800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189064000-189065200	Enhancers	HSMM	muscle
7	chr2:189064000-189065400	Enhancers	NHEK	skin
8	chr2:189064400-189065200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:189064400-189065200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:189064600-189065200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:189064600-189065400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:189065000-189065200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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