Variant report

Variant	rs11782572
Chromosome Location	chr8:48471045-48471046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1038797	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10504060	0.83[LWK][hapmap]
rs10808752	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10957549	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10957644	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958058	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1106607	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11778548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781727	1.00[ASW][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MKK][hapmap]
rs11784823	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs12544329	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12549996	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12675378	0.95[EUR][1000 genomes]
rs12678110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12682269	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs16928696	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1872840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2129617	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[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2129618	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2130411	0.82[CEU][hapmap]
rs2130412	0.94[EUR][1000 genomes]
rs2130413	0.96[CEU][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2172121	1.00[ASW][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap]
rs4489323	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4536257	0.92[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4608108	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873102	0.92[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs4873368	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs4873395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4873399	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873507	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873529	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4873565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4873619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55941013	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56092229	0.99[EUR][1000 genomes]
rs62539116	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62539144	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62539147	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62539150	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6982620	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6987043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6989917	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7014443	0.81[AMR][1000 genomes]
rs7826284	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs7827571	0.82[CEU][hapmap]
rs876915	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs923499	0.92[EUR][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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48479200	Weak transcription	Stomach Mucosa	stomach
2	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:48467200-48474200	Weak transcription	Pancreas	Pancrea
4	chr8:48467200-48478800	Weak transcription	Psoas Muscle	Psoas
5	chr8:48467400-48471400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:48467400-48473000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:48467400-48473600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:48467400-48474400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:48467400-48475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:48467400-48475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:48467400-48475800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:48467400-48475800	Weak transcription	Fetal Stomach	stomach
13	chr8:48467400-48476000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:48467400-48476000	Weak transcription	Lung	lung
15	chr8:48467400-48478200	Weak transcription	Spleen	Spleen
16	chr8:48467400-48479400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:48467400-48480000	Weak transcription	Primary B cells from cord blood	blood
18	chr8:48467400-48480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:48467400-48481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:48467400-48482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:48467400-48484600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:48467400-48485400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:48467400-48485800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:48467400-48486000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:48467400-48486000	Weak transcription	Esophagus	oesophagus
26	chr8:48467400-48486000	Weak transcription	Gastric	stomach
27	chr8:48467400-48486000	Weak transcription	Ovary	ovary
28	chr8:48467400-48492400	Weak transcription	Left Ventricle	heart
29	chr8:48467600-48471800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:48467600-48477600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:48467600-48479000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:48467600-48479000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:48467600-48480800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:48467800-48480800	Weak transcription	Dnd41	blood
35	chr8:48468600-48471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:48468800-48472800	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:48469000-48481600	Weak transcription	GM12878-XiMat	blood
38	chr8:48469200-48471600	Weak transcription	Primary T cells from cord blood	blood
39	chr8:48469200-48472800	Weak transcription	Small Intestine	intestine
40	chr8:48470600-48472600	Enhancers	K562	blood
41	chr8:48470600-48474200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:48470800-48474800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:48470800-48474800	Weak transcription	Placenta	Placenta
44	chr8:48470800-48478800	Weak transcription	Adipose Nuclei	Adipose

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