Variant report

Variant	rs11990797
Chromosome Location	chr8:105675462-105675463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105647273..105649368-chr8:105675042..105676589,2	K562	blood:
2	chr8:105660475..105662004-chr8:105674809..105677022,2	K562	blood:
3	chr8:105671044..105673505-chr8:105675145..105677961,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11775279	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11987087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35641998	0.93[EUR][1000 genomes]
rs4613969	1.00[CEU][hapmap];0.81[GIH][hapmap];0.82[TSI][hapmap];0.93[EUR][1000 genomes]
rs4734110	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7823671	0.83[GIH][hapmap]

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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11990797	LRP12	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105671800-105677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:105672000-105676400	Weak transcription	NH-A	brain
3	chr8:105672000-105677200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:105672000-105677200	Weak transcription	HSMMtube	muscle
5	chr8:105672200-105677000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:105672200-105677200	Weak transcription	NHLF	lung
7	chr8:105672400-105677000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:105672400-105677000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:105673800-105676400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:105674200-105675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:105674400-105675800	Enhancers	HMEC	breast
12	chr8:105674600-105675600	Enhancers	NHEK	skin
13	chr8:105674600-105675800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:105675000-105677200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:105675200-105676400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:105675200-105676400	Weak transcription	Osteobl	bone
17	chr8:105675200-105676800	Weak transcription	HSMM	muscle
18	chr8:105675400-105675800	Weak transcription	K562	blood
19	chr8:105675400-105676400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:105675400-105676600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:105675400-105676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:105675400-105676800	Weak transcription	NHDF-Ad	bronchial
23	chr8:105675400-105677000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:105675400-105677000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:105675400-105677000	Weak transcription	A549	lung

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