Variant report

Variant	rs7118283
Chromosome Location	chr11:34785823-34785824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10466455	0.80[ASN][1000 genomes]
rs10768094	0.80[ASN][1000 genomes]
rs10768097	0.80[ASN][1000 genomes]
rs10836302	0.80[ASN][1000 genomes]
rs10836303	0.80[ASN][1000 genomes]
rs10836304	0.80[ASN][1000 genomes]
rs11032840	0.80[ASN][1000 genomes]
rs11032852	0.80[ASN][1000 genomes]
rs11032858	0.99[ASN][1000 genomes]
rs11032876	0.92[ASN][1000 genomes]
rs11032877	0.92[ASN][1000 genomes]
rs11032878	0.92[ASN][1000 genomes]
rs11032879	0.92[ASN][1000 genomes]
rs11032880	0.92[ASN][1000 genomes]
rs11499809	0.80[ASN][1000 genomes]
rs12363271	0.92[ASN][1000 genomes]
rs1396890	0.99[ASN][1000 genomes]
rs1509667	0.80[ASN][1000 genomes]
rs1605880	0.80[ASN][1000 genomes]
rs1858167	0.92[ASN][1000 genomes]
rs1858169	0.92[ASN][1000 genomes]
rs1891289	0.92[ASN][1000 genomes]
rs1891291	0.92[ASN][1000 genomes]
rs2217480	0.92[ASN][1000 genomes]
rs34454415	0.99[ASN][1000 genomes]
rs4756171	0.92[ASN][1000 genomes]
rs7112043	0.80[ASN][1000 genomes]
rs7120959	0.92[ASN][1000 genomes]
rs906902	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv897214	chr11:34764251-34821948	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7118283	APIP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34760400-34787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34765200-34787000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:34775000-34786400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:34779400-34787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34780200-34790800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:34780600-34790800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:34780600-34792400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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