Variant report

Variant	rs1354765
Chromosome Location	chr11:93637776-93637777
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10741478	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10765638	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10765639	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10765640	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10765641	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10765642	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10831136	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10831137	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10831138	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10831139	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10831140	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10831141	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10831142	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11020582	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11020585	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11020586	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12788325	0.96[ASN][1000 genomes]
rs12789389	0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12806128	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354766	0.96[ASN][1000 genomes]
rs1395386	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1395387	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1506656	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1546400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089337	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2102332	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2102333	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35919303	0.90[ASN][1000 genomes]
rs7101791	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7115629	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7942444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181530	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8181533	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8181567	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8181578	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9633811	0.86[EUR][1000 genomes]

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv10748	chr11:93636188-93640796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1354765	C11orf75	cis	parietal	SCAN
rs1354765	MED17	cis	parietal	SCAN
rs1354765	CYB5D2	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93634400-93638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:93636400-93638400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93636400-93638400	Weak transcription	NHEK	skin
4	chr11:93636400-93639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:93637000-93638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:93637400-93641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:93637600-93637800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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