Variant report

Variant	rs7812722
Chromosome Location	chr8:118939094-118939095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
2	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10098363	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106675	0.82[CEU][hapmap]
rs1125103	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs11780699	0.91[CEU][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes]
rs11781153	0.87[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs11781245	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs11784466	0.82[CEU][hapmap]
rs12682332	0.81[CEU][hapmap]
rs13251463	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252084	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13256042	0.82[CEU][hapmap]
rs1462985	0.88[EUR][1000 genomes]
rs1542519	0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs1564132	0.82[CEU][hapmap]
rs17430610	0.82[CEU][hapmap]
rs17450863	0.81[CEU][hapmap]
rs17453043	0.82[CEU][hapmap]
rs17475190	0.82[CEU][hapmap]
rs2447535	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs2447536	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs2447537	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2447538	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2447539	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2447540	0.95[CEU][hapmap];0.87[GIH][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs2447541	0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2514719	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs2514720	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs28357275	0.82[CEU][hapmap]
rs28357277	0.82[CEU][hapmap]
rs3101574	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs3860883	0.83[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.95[ASN][1000 genomes]
rs4298514	0.91[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4391466	0.82[CEU][hapmap]
rs4467961	0.87[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes]
rs4475517	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4480148	0.82[CHB][hapmap];0.86[CHD][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4541958	0.91[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4621831	0.82[CHB][hapmap];0.87[CHD][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4644291	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876771	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876774	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4876775	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876777	0.87[CEU][hapmap]
rs4876783	0.85[GIH][hapmap]
rs4876784	0.82[CEU][hapmap];0.82[GIH][hapmap]
rs5005135	0.82[CEU][hapmap]
rs6469718	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6999044	0.82[CEU][hapmap]
rs7818831	0.87[CEU][hapmap]
rs7822297	0.82[CEU][hapmap]
rs7824651	0.89[EUR][1000 genomes]
rs958381	0.91[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs9656923	0.82[CEU][hapmap]
rs9656925	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7812722	SNTB1	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118933200-118943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:118933200-118946600	Weak transcription	Gastric	stomach
3	chr8:118933400-118940800	Enhancers	Osteobl	bone
4	chr8:118933600-118940000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:118933600-118941400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
8	chr8:118933600-118946200	Weak transcription	Ovary	ovary
9	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
10	chr8:118933800-118939400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:118933800-118939400	Weak transcription	Fetal Brain Male	brain
12	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:118934000-118940600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:118934600-118940200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:118935000-118940000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118935200-118939800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:118935200-118940200	Weak transcription	Right Ventricle	heart
18	chr8:118935200-118940400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:118935200-118942400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
22	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
23	chr8:118935400-118939800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:118936600-118939200	Weak transcription	Fetal Heart	heart
25	chr8:118936600-118940200	Weak transcription	A549	lung
26	chr8:118936600-118942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:118937000-118939200	Weak transcription	HMEC	breast
28	chr8:118937000-118939200	Weak transcription	NH-A	brain
29	chr8:118937200-118939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:118937600-118939400	Weak transcription	NHLF	lung
31	chr8:118937800-118939200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:118937800-118939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:118937800-118939800	Weak transcription	NHEK	skin
34	chr8:118937800-118942200	Enhancers	Liver	Liver
35	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:118938200-118939400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:118938200-118940600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:118938400-118940400	Enhancers	Fetal Lung	lung
39	chr8:118938400-118940600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:118938400-118942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:118938600-118939200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:118938600-118939200	Enhancers	Small Intestine	intestine
43	chr8:118938600-118940200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:118938600-118940600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:118938600-118940600	Enhancers	HSMM	muscle
46	chr8:118938800-118939200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:118938800-118939400	Enhancers	Brain Angular Gyrus	brain
48	chr8:118938800-118939400	Enhancers	Fetal Muscle Leg	muscle
49	chr8:118938800-118939400	Enhancers	HSMMtube	muscle
50	chr8:118938800-118939400	Enhancers	HUVEC	blood vessel

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