Variant report

Variant	rs11784823
Chromosome Location	chr8:48411320-48411321
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48409859..48412795-chr8:48648152..48651126,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10094128	0.82[CEU][hapmap]
rs10957074	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs10957549	0.98[EUR][1000 genomes]
rs10957644	0.99[EUR][1000 genomes]
rs10958058	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1106607	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11775628	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11778548	0.85[EUR][1000 genomes]
rs11782572	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs11783141	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11785228	0.85[AFR][1000 genomes]
rs12541086	0.82[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]
rs12544329	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs12549996	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs12675378	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12678110	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs12680669	0.82[AFR][1000 genomes]
rs16926260	1.00[YRI][hapmap]
rs16928696	0.95[EUR][1000 genomes]
rs1872840	0.88[EUR][1000 genomes]
rs2129617	0.96[CEU][hapmap];0.85[CHD][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2129618	0.91[EUR][1000 genomes]
rs2130412	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2130413	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[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];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2171854	1.00[YRI][hapmap]
rs2362554	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs34099416	1.00[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs35235599	0.83[AFR][1000 genomes]
rs4489323	0.86[EUR][1000 genomes]
rs4498545	1.00[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs4536257	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4594029	0.82[CEU][hapmap]
rs4608108	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4873102	1.00[ASW][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap]
rs4873106	1.00[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs4873293	0.80[AFR][1000 genomes]
rs4873368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873395	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4873399	0.93[EUR][1000 genomes]
rs4873437	0.97[EUR][1000 genomes]
rs4873477	1.00[YRI][hapmap]
rs4873478	0.82[CEU][hapmap]
rs4873507	0.87[EUR][1000 genomes]
rs4873529	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs4873546	0.81[CEU][hapmap]
rs4873565	0.90[EUR][1000 genomes]
rs4873619	0.85[EUR][1000 genomes]
rs55941013	0.94[EUR][1000 genomes]
rs56092229	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62539116	0.92[EUR][1000 genomes]
rs62539144	0.89[EUR][1000 genomes]
rs62539147	0.89[EUR][1000 genomes]
rs62539150	0.87[EUR][1000 genomes]
rs6982620	1.00[CEU][hapmap];0.85[CHD][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs6986054	0.82[CEU][hapmap]
rs6987043	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6989917	0.95[EUR][1000 genomes]
rs7002441	1.00[YRI][hapmap]
rs7842068	0.82[CEU][hapmap]
rs876915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs902619	1.00[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs923499	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11784823	KIAA0146	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
2	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
4	chr8:48397800-48417600	Weak transcription	Gastric	stomach
5	chr8:48397800-48418200	Weak transcription	Dnd41	blood
6	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:48398400-48411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:48402200-48417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:48404800-48421200	Weak transcription	Lung	lung
15	chr8:48407800-48415000	Weak transcription	GM12878-XiMat	blood
16	chr8:48407800-48418600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:48408400-48412000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:48409000-48411800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:48410000-48411600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:48410200-48411400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:48410200-48412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:48410400-48411400	Enhancers	Brain Substantia Nigra	brain
23	chr8:48410400-48411600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:48410400-48411800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:48410400-48411800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:48410400-48411800	Active TSS	Fetal Muscle Trunk	muscle
27	chr8:48410400-48412000	Active TSS	Fetal Muscle Leg	muscle
28	chr8:48410600-48411400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:48410600-48411600	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:48410600-48411600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:48410600-48411800	Enhancers	A549	lung
32	chr8:48410600-48420800	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
34	chr8:48410800-48411800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:48410800-48411800	Weak transcription	Ovary	ovary
36	chr8:48410800-48421600	Weak transcription	HSMM	muscle
37	chr8:48411000-48411400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:48411000-48411400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr8:48411000-48411800	Enhancers	Rectal Smooth Muscle	rectum
40	chr8:48411000-48412000	Flanking Active TSS	Liver	Liver
41	chr8:48411000-48412000	Enhancers	Fetal Lung	lung
42	chr8:48411000-48420600	Weak transcription	Fetal Brain Male	brain
43	chr8:48411200-48411400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:48411200-48411400	Enhancers	HMEC	breast
45	chr8:48411200-48411800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:48411200-48411800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr8:48411200-48412000	Enhancers	HSMMtube	muscle

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