Variant report

Variant	rs11781153
Chromosome Location	chr8:118924461-118924462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10087446	0.83[CEU][hapmap];0.84[CHD][hapmap]
rs10097196	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs10105797	0.83[ASN][1000 genomes]
rs10106675	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808489	0.81[JPT][hapmap]
rs10955846	0.83[CEU][hapmap]
rs1125103	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11774623	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776292	0.81[CHB][hapmap]
rs11776458	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777220	0.92[ASN][1000 genomes]
rs11777874	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11780699	0.96[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11781245	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783359	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11784409	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11784466	0.87[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785986	0.82[GIH][hapmap]
rs11986974	0.82[CHB][hapmap]
rs12678309	0.82[CHB][hapmap]
rs12682332	0.86[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13252084	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs13260665	0.83[CEU][hapmap]
rs1462985	0.91[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1466429	0.83[CEU][hapmap];0.84[CHD][hapmap]
rs1542519	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17430540	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430610	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17450835	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17450856	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450863	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450876	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17452966	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17453043	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17475190	0.87[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17479600	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17503934	0.82[CHB][hapmap]
rs2008799	0.83[CEU][hapmap]
rs2199545	0.83[CEU][hapmap];0.84[CHD][hapmap]
rs2219724	0.83[CEU][hapmap]
rs2447535	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447536	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2447537	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2447538	0.87[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2447539	0.87[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2447540	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2447541	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514719	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514720	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28357271	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357275	0.87[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28357276	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28357277	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101574	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4298514	0.96[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4391466	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4475517	0.85[EUR][1000 genomes]
rs4480148	0.82[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs4541958	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4602926	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4621831	0.83[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs4644291	0.92[EUR][1000 genomes]
rs4876774	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs4876775	0.83[CEU][hapmap]
rs4876777	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4876781	0.83[CEU][hapmap]
rs4876782	0.83[CEU][hapmap];0.83[CHD][hapmap]
rs4876783	0.83[CEU][hapmap];0.84[CHD][hapmap]
rs4876784	0.84[CHD][hapmap]
rs5005135	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56748438	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62521139	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521140	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521141	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469716	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469718	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6982505	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985552	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997503	0.81[JPT][hapmap]
rs6999044	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007735	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012890	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812722	0.87[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs7820452	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822297	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824327	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824391	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824395	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824651	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830840	0.82[CHB][hapmap]
rs7836747	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840309	0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7842917	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7843515	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs958381	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643120	0.83[CEU][hapmap]
rs9656923	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656925	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11781153	MAL2	cis	cerebellum	SCAN
rs11781153	SNTB1	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118912000-118925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:118913400-118925600	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:118916200-118925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:118919000-118926800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:118919800-118925800	Weak transcription	Small Intestine	intestine
8	chr8:118921200-118926400	Enhancers	NHDF-Ad	bronchial
9	chr8:118921200-118926600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:118921400-118924600	Enhancers	HMEC	breast
11	chr8:118921600-118926400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:118921800-118926400	Enhancers	NHLF	lung
13	chr8:118922400-118926400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:118922600-118925000	Enhancers	Liver	Liver
15	chr8:118922800-118932800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:118923000-118926600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:118923200-118925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:118923200-118926400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:118923200-118926400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:118923200-118933000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:118923400-118924800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:118923400-118925000	Weak transcription	Esophagus	oesophagus
24	chr8:118923400-118925400	Weak transcription	HSMMtube	muscle
25	chr8:118923600-118926800	Enhancers	Osteobl	bone
26	chr8:118923800-118924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:118923800-118924800	Weak transcription	HSMM	muscle
28	chr8:118923800-118925200	Weak transcription	Aorta	Aorta
29	chr8:118923800-118925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:118923800-118930000	Weak transcription	Pancreas	Pancrea
31	chr8:118923800-118933800	Weak transcription	Fetal Stomach	stomach
32	chr8:118924000-118924800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:118924000-118924800	Weak transcription	Gastric	stomach
34	chr8:118924000-118925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:118924000-118925400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:118924000-118925800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:118924000-118925800	Weak transcription	A549	lung
38	chr8:118924000-118925800	Weak transcription	NHEK	skin
39	chr8:118924000-118932800	Weak transcription	Ovary	ovary
40	chr8:118924000-118933000	Weak transcription	Lung	lung
41	chr8:118924200-118924600	Weak transcription	NH-A	brain
42	chr8:118924200-118925400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:118924400-118924600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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