Variant report

Variant	rs4536257
Chromosome Location	chr8:48421539-48421540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48421398..48423203-chr8:48423816..48426679,2	K562	blood:
2	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
3	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000253330	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10957074	0.94[JPT][hapmap]
rs10957549	0.94[EUR][1000 genomes]
rs10957644	0.94[EUR][1000 genomes]
rs10958058	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1106607	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11775628	0.89[ASN][1000 genomes]
rs11782572	0.92[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11783141	0.94[JPT][hapmap]
rs11784823	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]
rs12541086	0.92[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap]
rs12544329	0.96[CEU][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12549996	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs12675378	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12678110	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs16926621	0.89[YRI][hapmap]
rs16928696	0.91[EUR][1000 genomes]
rs1872840	0.82[EUR][1000 genomes]
rs2129617	0.92[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2129618	0.85[EUR][1000 genomes]
rs2130412	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130413	0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2362554	0.94[JPT][hapmap]
rs34099416	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs4489323	0.80[EUR][1000 genomes]
rs4498545	0.89[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap]
rs4608108	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4873106	0.89[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs4873368	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873395	0.96[CEU][hapmap];0.80[CHD][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4873399	0.87[EUR][1000 genomes]
rs4873437	0.93[EUR][1000 genomes]
rs4873507	0.83[EUR][1000 genomes]
rs4873529	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4873565	0.84[EUR][1000 genomes]
rs55941013	0.88[EUR][1000 genomes]
rs56092229	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62539116	0.86[EUR][1000 genomes]
rs62539144	0.84[EUR][1000 genomes]
rs62539147	0.84[EUR][1000 genomes]
rs62539150	0.82[EUR][1000 genomes]
rs6982620	0.96[CEU][hapmap];0.85[CHD][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs6987043	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs6989917	0.91[EUR][1000 genomes]
rs876915	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902619	0.89[CHD][hapmap];0.94[JPT][hapmap]
rs923499	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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
rs4536257	KIAA0146	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
2	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:48410800-48421600	Weak transcription	HSMM	muscle
6	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
7	chr8:48411800-48423400	Weak transcription	A549	lung
8	chr8:48411800-48423400	Weak transcription	Hela-S3	cervix
9	chr8:48411800-48423800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:48412000-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:48412000-48421600	Weak transcription	Fetal Lung	lung
12	chr8:48416800-48421800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:48416800-48423800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:48418400-48422600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:48418400-48423600	Weak transcription	Fetal Stomach	stomach
16	chr8:48418400-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:48418600-48422000	Enhancers	Fetal Muscle Leg	muscle
19	chr8:48418600-48422600	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:48418600-48423400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:48418800-48421800	Weak transcription	Dnd41	blood
22	chr8:48419400-48421800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:48419600-48421600	Weak transcription	Adipose Nuclei	Adipose
24	chr8:48419600-48422000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:48419600-48422000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:48419600-48422600	Enhancers	Right Atrium	heart
27	chr8:48419600-48422800	Enhancers	Placenta	Placenta
28	chr8:48419600-48423400	Weak transcription	Gastric	stomach
29	chr8:48419800-48421800	Weak transcription	Colonic Mucosa	Colon
30	chr8:48419800-48421800	Enhancers	Psoas Muscle	Psoas
31	chr8:48419800-48421800	Enhancers	GM12878-XiMat	blood
32	chr8:48419800-48422600	Enhancers	Pancreas	Pancrea
33	chr8:48420000-48423400	Weak transcription	HSMMtube	muscle
34	chr8:48420200-48421600	Weak transcription	Fetal Intestine Small	intestine
35	chr8:48420200-48421800	Genic enhancers	Primary B cells from cord blood	blood
36	chr8:48420200-48423400	Weak transcription	Ovary	ovary
37	chr8:48420200-48426400	Weak transcription	Esophagus	oesophagus
38	chr8:48420400-48422000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:48420400-48425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:48420600-48421600	Weak transcription	Liver	Liver
41	chr8:48420600-48421600	Weak transcription	Left Ventricle	heart
42	chr8:48420600-48421600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:48420600-48422000	Enhancers	Small Intestine	intestine
44	chr8:48420600-48422600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr8:48420600-48424000	Weak transcription	NH-A	brain
46	chr8:48420600-48424600	Weak transcription	HMEC	breast
47	chr8:48420600-48424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:48420600-48425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:48420800-48421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:48420800-48421600	Weak transcription	Spleen	Spleen

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