Variant report

Variant	rs1058913
Chromosome Location	chr8:120575184-120575185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10505355	1.00[JPT][hapmap]
rs11526	1.00[JPT][hapmap]
rs11775043	1.00[JPT][hapmap]
rs11782222	1.00[JPT][hapmap]
rs11784229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785549	1.00[JPT][hapmap]
rs1381333	1.00[JPT][hapmap]
rs1381334	1.00[JPT][hapmap]
rs1381335	1.00[JPT][hapmap]
rs14324	1.00[JPT][hapmap]
rs1461690	1.00[JPT][hapmap]
rs1599473	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs16892729	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17187482	1.00[JPT][hapmap]
rs17191747	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17192692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791184	1.00[JPT][hapmap]
rs17791208	1.00[JPT][hapmap]
rs17801314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34112166	1.00[JPT][hapmap]
rs4123837	1.00[JPT][hapmap]
rs7001817	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7001971	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012314	0.83[CHD][hapmap]
rs72688207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688208	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816205	1.00[JPT][hapmap]
rs7816347	1.00[JPT][hapmap]
rs7834596	1.00[JPT][hapmap]

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	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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1058913	NOV	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120565800-120576000	Weak transcription	Left Ventricle	heart
3	chr8:120566000-120577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:120566000-120577800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
6	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
7	chr8:120566200-120577000	Weak transcription	NHLF	lung
8	chr8:120566200-120577200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:120566200-120578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:120566400-120579000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:120567000-120577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:120567000-120580200	Strong transcription	Placenta	Placenta
13	chr8:120568000-120577800	Strong transcription	Liver	Liver
14	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
15	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:120568400-120582200	Weak transcription	Ovary	ovary
17	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
18	chr8:120568800-120576600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:120569000-120576000	Strong transcription	Fetal Lung	lung
20	chr8:120569200-120575800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
22	chr8:120569800-120578600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:120570600-120578000	Weak transcription	Thymus	Thymus
24	chr8:120570800-120580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:120571000-120575600	Strong transcription	Osteobl	bone
26	chr8:120571000-120576200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:120571400-120592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:120571600-120579800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:120572200-120577000	Strong transcription	NHDF-Ad	bronchial
30	chr8:120572200-120580800	Strong transcription	Adipose Nuclei	Adipose
31	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
32	chr8:120572600-120591600	Weak transcription	Psoas Muscle	Psoas
33	chr8:120572800-120576000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:120573400-120575600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:120573400-120576600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:120574400-120575600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:120574800-120575400	Genic enhancers	Brain Hippocampus Middle	brain
39	chr8:120575000-120575200	Strong transcription	Brain Anterior Caudate	brain
40	chr8:120575000-120575200	ZNF genes & repeats	Lung	lung
41	chr8:120575000-120575400	Genic enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:120575000-120575800	Genic enhancers	Brain Substantia Nigra	brain
43	chr8:120575000-120576800	Genic enhancers	Brain Cingulate Gyrus	brain
44	chr8:120575000-120578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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