Variant report

Variant	rs494490
Chromosome Location	chr15:41501390-41501391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11855102	0.82[EUR][1000 genomes]
rs11858115	0.82[GIH][hapmap];0.85[TSI][hapmap]
rs11858678	0.89[GIH][hapmap];0.87[TSI][hapmap]
rs2164996	0.82[GIH][hapmap];0.85[TSI][hapmap]
rs2918462	0.89[GIH][hapmap];0.87[TSI][hapmap]
rs6492991	0.82[EUR][1000 genomes]
rs6492993	0.87[GIH][hapmap];0.87[TSI][hapmap]
rs6492997	0.83[GIH][hapmap];0.85[TSI][hapmap]
rs690733	0.89[GIH][hapmap];0.87[TSI][hapmap]
rs692153	0.80[TSI][hapmap]
rs7166205	0.82[EUR][1000 genomes]
rs7166905	0.82[EUR][1000 genomes]
rs7170049	0.89[GIH][hapmap];0.87[TSI][hapmap]
rs7173086	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs7175912	0.80[GIH][hapmap]

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	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1039906	chr15:41476209-41518976	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs494490	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41500200-41501600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr15:41500400-41501400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:41500400-41501400	Enhancers	HMEC	breast
4	chr15:41500400-41501600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:41500600-41501400	Enhancers	NHEK	skin
6	chr15:41500800-41501600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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