Variant report

Variant	rs2992982
Chromosome Location	chr6:75285255-75285256
allele	A/G
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]
rs2485069	1.00[EUR][1000 genomes]
rs2485450	1.00[EUR][1000 genomes]
rs2502456	1.00[EUR][1000 genomes]
rs2502459	1.00[EUR][1000 genomes]
rs2785683	0.84[YRI][hapmap]
rs2785685	0.83[YRI][hapmap]
rs4635990	1.00[EUR][1000 genomes]
rs583516	1.00[EUR][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	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830694	chr6:75245483-75446282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr6:75278800-75287200	Weak transcription	NHLF	lung
2	chr6:75283600-75287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:75284600-75289000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:75284800-75287200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:75285000-75286800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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