Variant report

Variant	rs4648318
Chromosome Location	chr11:113313389-113313390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1076562	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs11214607	0.83[CHB][hapmap]
rs2002453	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs2005313	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs2245805	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs2471850	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471856	0.95[EUR][1000 genomes]
rs2511521	0.91[EUR][1000 genomes]
rs4586205	0.94[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4648319	0.86[CHD][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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv898394	chr11:113298339-113341391	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv1821565	chr11:113306765-113331532	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4648318	TTC12	cis	lesional skin	skin_eQTL
rs4648318	FDX1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113307200-113316200	Weak transcription	HMEC	breast
2	chr11:113307400-113314400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:113311000-113316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:113312800-113313400	Enhancers	Brain Anterior Caudate	brain
5	chr11:113313000-113313600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:113313200-113313800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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