Variant report

Variant	rs908945
Chromosome Location	chr8:120990068-120990069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120981030..120983921-chr8:120987926..120990763,2	K562	blood:
2	chr8:120884447..120887297-chr8:120988136..120991127,2	MCF-7	breast:
3	chr8:120985045..120986649-chr8:120987660..120991345,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10105766	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10955945	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1106481	1.00[ASW][hapmap];0.94[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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678899	0.86[ASN][1000 genomes]
rs12678916	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1814953	0.83[ASN][1000 genomes]
rs1814954	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1914992	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs28415366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28650977	0.81[ASN][1000 genomes]
rs28658252	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875929	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2875930	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35767723	0.89[ASN][1000 genomes]
rs3930200	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4871028	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4871824	0.82[MEX][hapmap]
rs7823697	0.89[EUR][1000 genomes]
rs7823956	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297608	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]

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	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
3	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
4	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
5	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
6	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
7	nsv968552	chr8:120988705-120994905	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv524750	chr8:120990068-120993134	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs908945	NOV	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
2	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
3	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
4	chr8:120978000-121013600	Weak transcription	Gastric	stomach
5	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:120979000-120990600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
9	chr8:120981600-120992600	Enhancers	Fetal Intestine Large	intestine
10	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:120984200-120990200	Weak transcription	Colonic Mucosa	Colon
12	chr8:120984200-120990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120984600-120990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:120984600-120990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:120985600-120996800	Enhancers	Stomach Mucosa	stomach
16	chr8:120986000-120994800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:120986200-120990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:120986200-120994400	Weak transcription	Right Atrium	heart
19	chr8:120986400-120990200	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:120986400-120990200	Weak transcription	Fetal Thymus	thymus
21	chr8:120986400-120990400	Weak transcription	Fetal Stomach	stomach
22	chr8:120986400-120999600	Weak transcription	Spleen	Spleen
23	chr8:120986800-120990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:120987000-120990800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:120987400-120992200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:120987600-120990400	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:120987600-120990400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:120987600-120991200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:120987800-120992000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:120988200-120990400	Weak transcription	Placenta	Placenta
31	chr8:120988400-120991200	Enhancers	Liver	Liver
32	chr8:120988400-120991400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:120988400-120996800	Enhancers	Fetal Intestine Small	intestine
34	chr8:120988600-120990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:120988600-120991800	Enhancers	Fetal Muscle Leg	muscle
36	chr8:120988800-120990200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:120988800-120990400	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:120988800-120990800	Enhancers	Ovary	ovary
39	chr8:120988800-120990800	Enhancers	Pancreas	Pancrea
40	chr8:120988800-120991200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:120988800-120992400	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:120989000-120990200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:120989000-120990400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:120989200-120990200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:120989200-120990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:120989200-120990200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:120989200-120990400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:120989200-120990400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:120989200-120990400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:120989200-120990400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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