Variant report

Variant	rs7011862
Chromosome Location	chr8:49817333-49817334
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12155623	0.81[AFR][1000 genomes]
rs16939055	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750259	1.00[YRI][hapmap]
rs6472110	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987879	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817186	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7011862	EFCAB1	cis	parietal	SCAN
rs7011862	SNTG1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49808800-49818600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:49809400-49817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:49811600-49822000	Weak transcription	Fetal Kidney	kidney
4	chr8:49813400-49818200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49814400-49817800	Enhancers	HSMM	muscle
6	chr8:49814800-49817400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:49814800-49817600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:49814800-49817800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:49814800-49817800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:49814800-49818000	Enhancers	NHLF	lung
11	chr8:49814800-49818200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:49814800-49818200	Enhancers	NHDF-Ad	bronchial
13	chr8:49815000-49818000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:49815000-49821000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:49815000-49821200	Weak transcription	Fetal Lung	lung
16	chr8:49815600-49817400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:49816000-49817800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:49816000-49818000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:49816000-49821000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:49816000-49823000	Weak transcription	Spleen	Spleen
21	chr8:49816200-49830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:49816400-49817400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:49816400-49818600	Enhancers	NH-A	brain
24	chr8:49816400-49823400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:49816600-49818200	Enhancers	Osteobl	bone
26	chr8:49816600-49823800	Weak transcription	Ovary	ovary
27	chr8:49816800-49818000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:49816800-49819200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:49817000-49817400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:49817200-49817400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:49817200-49817400	Enhancers	HSMMtube	muscle

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