Variant report

Variant	rs4876783
Chromosome Location	chr8:118991029-118991030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
2	chr8:118990517..118992059-chr8:119122818..119125739,2	MCF-7	breast:
3	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10087446	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097196	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10102745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10105797	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10955846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125103	0.87[CEU][hapmap];0.81[AFR][1000 genomes]
rs11780699	0.87[CEU][hapmap]
rs11781153	0.83[CEU][hapmap];0.84[CHD][hapmap]
rs11781245	0.87[CEU][hapmap]
rs13256042	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260665	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462985	0.84[JPT][hapmap]
rs1466429	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1542519	0.83[CEU][hapmap];0.90[CHD][hapmap]
rs1564132	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2168667	0.84[JPT][hapmap]
rs2199545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2219724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325820	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2325821	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2447535	0.91[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.81[AFR][1000 genomes]
rs2447536	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2447537	0.87[CEU][hapmap]
rs2447538	0.84[JPT][hapmap]
rs2447539	0.84[JPT][hapmap]
rs2447540	0.83[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap]
rs2447541	0.83[CEU][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs2514719	0.91[CEU][hapmap]
rs2514720	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs2514727	0.94[ASN][1000 genomes]
rs3101574	0.87[CEU][hapmap]
rs3860883	0.87[GIH][hapmap]
rs4298514	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs4467961	0.87[GIH][hapmap]
rs4541958	0.87[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap]
rs4876774	0.83[CEU][hapmap]
rs4876775	0.83[CEU][hapmap]
rs4876777	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4876781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876784	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469718	0.87[CEU][hapmap]
rs7812722	0.85[GIH][hapmap]
rs7815972	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7818831	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840309	1.00[ASW][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs7843515	0.82[CHD][hapmap]
rs958381	1.00[ASW][hapmap];0.87[CEU][hapmap];0.90[CHD][hapmap];0.81[AFR][1000 genomes]
rs9643120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4876783	NOV	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
2	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:118975400-118992400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:118978200-118992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:118981200-118992400	Weak transcription	Left Ventricle	heart
7	chr8:118982000-118993800	Weak transcription	Gastric	stomach
8	chr8:118982200-118992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:118982400-118992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:118983400-118993000	Weak transcription	Esophagus	oesophagus
11	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
12	chr8:118983800-118992200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:118983800-118992600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:118984200-118993600	Weak transcription	Fetal Intestine Large	intestine
15	chr8:118986600-118993000	Enhancers	NHLF	lung
16	chr8:118986800-118991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:118987000-118993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:118987200-118992200	Weak transcription	Lung	lung
19	chr8:118987200-118992200	Weak transcription	Spleen	Spleen
20	chr8:118987400-118992400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:118987400-118992400	Weak transcription	Right Ventricle	heart
22	chr8:118987400-118992600	Enhancers	Osteobl	bone
23	chr8:118987600-118992200	Weak transcription	Fetal Kidney	kidney
24	chr8:118987600-118994200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:118988000-118992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:118988800-118991800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:118988800-118992000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:118989000-118992600	Enhancers	HUVEC	blood vessel
29	chr8:118989000-118993000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:118989200-118992000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:118989200-118992200	Weak transcription	Aorta	Aorta
32	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:118989600-118991400	Enhancers	Fetal Muscle Leg	muscle
34	chr8:118989600-118991400	Enhancers	Ovary	ovary
35	chr8:118989600-118992800	Enhancers	HMEC	breast
36	chr8:118989600-118994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:118989600-118994600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:118989800-118991200	Enhancers	Fetal Lung	lung
39	chr8:118989800-118991200	Enhancers	HSMMtube	muscle
40	chr8:118989800-118991400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:118989800-118991400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:118989800-118991400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:118989800-118991400	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:118989800-118991600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:118989800-118991600	Enhancers	Adipose Nuclei	Adipose
46	chr8:118989800-118993000	Enhancers	NHEK	skin
47	chr8:118989800-118993400	Enhancers	GM12878-XiMat	blood
48	chr8:118989800-118994200	Enhancers	Fetal Stomach	stomach
49	chr8:118990000-118991600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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