Variant report

Variant	rs10955945
Chromosome Location	chr8:120962320-120962321
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10104948	0.80[ASN][1000 genomes]
rs10105766	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1106481	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs1106482	0.87[EUR][1000 genomes]
rs11987040	0.87[EUR][1000 genomes]
rs12541789	0.80[ASN][1000 genomes]
rs12678916	0.80[EUR][1000 genomes]
rs1554376	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1814954	0.87[EUR][1000 genomes]
rs2102905	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs28415366	0.84[EUR][1000 genomes]
rs28658252	0.84[EUR][1000 genomes]
rs2875930	1.00[CEU][hapmap]
rs3930200	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871028	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67498247	0.80[ASN][1000 genomes]
rs7823697	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823956	0.87[EUR][1000 genomes]
rs908945	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs908946	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9297608	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9987111	0.80[ASN][1000 genomes]

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	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
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription 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	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10955945	NOV	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
2	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
3	chr8:120947400-120963200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:120947400-120964400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
6	chr8:120951600-120963400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:120954200-120968000	Weak transcription	Stomach Mucosa	stomach
8	chr8:120954600-120970400	Weak transcription	Fetal Stomach	stomach
9	chr8:120954800-120964400	Weak transcription	Right Atrium	heart
10	chr8:120955400-120963600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:120955600-120963600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:120956600-120963000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:120959600-120963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:120959600-120964400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:120959600-120968600	Weak transcription	Aorta	Aorta
16	chr8:120959800-120966400	Weak transcription	Ovary	ovary
17	chr8:120959800-120977400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:120960000-120968600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:120960200-120964000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:120960400-120963200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:120960400-120963200	Weak transcription	Lung	lung
22	chr8:120960400-120963600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:120960400-120963600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:120960400-120963800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:120960400-120964200	Weak transcription	Left Ventricle	heart
26	chr8:120960400-120966400	Weak transcription	Gastric	stomach
27	chr8:120960400-120967800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:120960400-120968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:120960400-120968200	Weak transcription	Liver	Liver
30	chr8:120960400-120968200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:120960400-120968200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:120960400-120968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:120960600-120963600	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:120960600-120968200	Weak transcription	Brain Anterior Caudate	brain
35	chr8:120960600-120968200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:120960600-120968400	Weak transcription	Brain Angular Gyrus	brain
37	chr8:120960600-120968600	Weak transcription	Fetal Intestine Large	intestine
38	chr8:120961800-120963600	Weak transcription	Colon Smooth Muscle	Colon

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