Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93667365..93670015-chr11:93861067..93863754,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110218	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1032934	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1032935	0.81[ASN][1000 genomes]
rs11020587	0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1113700	0.95[ASN][1000 genomes]
rs11825763	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1401184	0.81[JPT][hapmap]
rs1518560	0.87[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap]
rs1605292	0.91[ASN][1000 genomes]
rs1605293	0.91[ASN][1000 genomes]
rs1850656	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2019595	0.87[ASN][1000 genomes]
rs2056247	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2203793	0.81[JPT][hapmap]
rs2460047	0.95[ASN][1000 genomes]
rs2462733	0.81[JPT][hapmap]
rs2462735	0.81[JPT][hapmap]
rs2462759	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2511403	0.87[CEU][hapmap]
rs4590831	0.81[ASN][1000 genomes]
rs57214110	0.95[ASN][1000 genomes]
rs57367718	0.95[ASN][1000 genomes]
rs59013509	0.95[ASN][1000 genomes]
rs60539088	0.93[ASN][1000 genomes]
rs61463513	0.92[ASN][1000 genomes]
rs66650995	0.93[ASN][1000 genomes]
rs67689846	0.92[ASN][1000 genomes]
rs67926172	0.93[ASN][1000 genomes]
rs68019383	0.93[ASN][1000 genomes]
rs7102891	0.81[ASN][1000 genomes]
rs72962832	0.95[ASN][1000 genomes]
rs72962854	0.93[ASN][1000 genomes]
rs7932631	0.81[ASN][1000 genomes]
rs908754	0.87[ASN][1000 genomes]
rs978950	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1796911	chr11:93642877-93688134	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10501811	HEPHL1	cis	Artery Tibial	GTEx
rs10501811	GPR83	cis	cerebellum	SCAN
rs10501811	HEPHL1	cis	Artery Aorta	GTEx
rs10501811	PANX1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93669000-93670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93669400-93670200	Enhancers	Fetal Brain Female	brain
3	chr11:93669400-93670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:93669400-93670400	Enhancers	NHEK	skin
5	chr11:93669400-93671800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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