Variant report

Variant	rs11994775
Chromosome Location	chr8:120127586-120127587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120123252..120128065-chr8:120218865..120222398,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1158945	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259300	0.83[ASN][1000 genomes]
rs1351952	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364708	0.82[CEU][hapmap]
rs1385493	0.95[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1485293	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1485294	0.83[ASN][1000 genomes]
rs1549415	0.82[CEU][hapmap]
rs1905775	0.90[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2242313	0.82[JPT][hapmap]
rs2450060	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs2450063	0.87[GIH][hapmap]
rs2450064	0.90[ASN][1000 genomes]
rs2450065	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2450067	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2450068	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2450069	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2450072	0.82[JPT][hapmap]
rs2450076	0.82[JPT][hapmap]
rs2450079	0.87[GIH][hapmap]
rs2450080	0.82[JPT][hapmap]
rs2465370	0.82[CEU][hapmap]
rs2465385	0.81[JPT][hapmap]
rs2465390	0.86[JPT][hapmap]
rs2465392	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465403	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2465404	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2468171	0.86[CEU][hapmap]
rs4279627	0.82[CEU][hapmap]
rs7813952	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1804892	chr8:120120429-120161140	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810588	chr8:120120429-120168446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1808446	chr8:120120901-120168446	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv521945	chr8:120125966-120127586	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1812136	chr8:120127586-120161140	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11994775	TNFRSF11B	cis	lymphoblastoid	seeQTL
rs11994775	NOV	cis	cerebellum	SCAN
rs11994775	MAL2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120124600-120129200	Enhancers	NHEK	skin
2	chr8:120125600-120129200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:120126000-120127600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:120126000-120129400	Enhancers	HMEC	breast
5	chr8:120126200-120127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:120126200-120128600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:120126200-120129200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:120126600-120127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:120127400-120128600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:120127400-120133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:120127400-120133200	Weak transcription	Osteobl	bone

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