Variant report

Variant	rs7001937
Chromosome Location	chr8:121336940-121336941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10096828	0.82[EUR][1000 genomes]
rs10955969	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs11774731	0.83[EUR][1000 genomes]
rs13255609	0.81[EUR][1000 genomes]
rs13438950	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1563391	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1563393	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1563394	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1563395	0.81[EUR][1000 genomes]
rs2034844	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2168406	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2168407	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2198750	0.81[EUR][1000 genomes]
rs2219243	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290521	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2290523	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2290524	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs34104524	0.83[EUR][1000 genomes]
rs4143484	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4871058	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4871060	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs6469917	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7001798	0.92[CEU][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs7017523	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7821701	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7838078	0.82[EUR][1000 genomes]
rs930852	0.81[CEU][hapmap]
rs9650079	0.81[EUR][1000 genomes]
rs9650080	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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7001937	NOV	cis	parietal	SCAN
rs7001937	MTBP	cis	cerebellum	SCAN
rs7001937	TMEM65	cis	parietal	SCAN
rs7001937	MTBP	cis	parietal	SCAN
rs7001937	MRPL13	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121284800-121347800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121320400-121372600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121322400-121337400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:121323200-121344800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121323800-121345800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:121328600-121340800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:121332200-121338800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:121333800-121383800	Weak transcription	Fetal Intestine Large	intestine
9	chr8:121334000-121338000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:121336200-121337400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:121336200-121337400	Enhancers	Fetal Heart	heart
12	chr8:121336600-121337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:121336600-121337000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:121336600-121337000	Enhancers	Fetal Lung	lung
15	chr8:121336600-121337000	Genic enhancers	Fetal Stomach	stomach
16	chr8:121336600-121337000	Enhancers	Ovary	ovary
17	chr8:121336600-121337200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:121336600-121337200	Enhancers	Osteobl	bone
19	chr8:121336600-121337600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:121336600-121339800	Strong transcription	Aorta	Aorta
21	chr8:121336800-121337000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:121336800-121337200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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