Variant report

Variant	rs13014478
Chromosome Location	chr2:190047730-190047731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10190073	0.90[AFR][1000 genomes]
rs10210890	0.95[AFR][1000 genomes]
rs10931399	0.83[YRI][hapmap];0.90[AFR][1000 genomes]
rs12693529	0.83[YRI][hapmap];0.95[AFR][1000 genomes]
rs1399990	0.95[AFR][1000 genomes]
rs1818585	0.95[AFR][1000 genomes]
rs2037170	0.82[YRI][hapmap];0.95[AFR][1000 genomes]
rs2037171	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs34556340	0.95[AFR][1000 genomes]
rs58082189	0.85[AFR][1000 genomes]
rs59784139	0.85[AFR][1000 genomes]
rs6434329	0.95[AFR][1000 genomes]
rs6434331	0.90[AFR][1000 genomes]
rs6434332	0.95[AFR][1000 genomes]
rs6706066	0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs7578627	0.95[AFR][1000 genomes]
rs7606163	0.83[YRI][hapmap];0.95[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190045000-190048000	Enhancers	Fetal Intestine Large	intestine
2	chr2:190045800-190053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:190045800-190056600	Weak transcription	HSMM	muscle
4	chr2:190046600-190057600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:190047000-190049200	Enhancers	A549	lung

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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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