Variant report

Variant	rs675478
Chromosome Location	chr11:94133047-94133048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1133572	0.85[EUR][1000 genomes]
rs2508678	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2509324	0.84[CEU][hapmap]
rs518276	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs533984	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs541472	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs576948	0.81[EUR][1000 genomes]
rs584707	0.80[CEU][hapmap]
rs6483341	0.82[CHB][hapmap]

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	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs675478	MRE11A	cis	Artery Tibial	GTEx
rs675478	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs675478	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs675478	MRE11A	cis	Esophagus Muscularis	GTEx
rs675478	MRE11A	cis	Esophagus Mucosa	GTEx
rs675478	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs675478	MRE11A	cis	lung	GTEx
rs675478	MRE11A	cis	Adipose Subcutaneous	GTEx
rs675478	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs675478	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs675478	MRE11A	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94132600-94135200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
2	chr11:94132800-94134800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr11:94133000-94133200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:94133000-94133200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:94133000-94133800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:94133000-94135000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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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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