Variant report

Variant	rs57192446
Chromosome Location	chr2:68078034-68078035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11890958	1.00[EUR][1000 genomes]
rs57818452	1.00[EUR][1000 genomes]
rs59438564	1.00[EUR][1000 genomes]
rs72893073	1.00[EUR][1000 genomes]
rs733708	1.00[EUR][1000 genomes]
rs73939019	1.00[EUR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv999943	chr2:67951861-68205615	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:68073600-68079600	Weak transcription	Aorta	Aorta
2	chr2:68073800-68083200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:68074000-68080800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:68074000-68083400	Weak transcription	Fetal Kidney	kidney
5	chr2:68076400-68078600	Enhancers	Fetal Heart	heart

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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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