Variant report

Variant	rs827581
Chromosome Location	chr8:104357507-104357508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104352324..104354992-chr8:104357088..104360934,4	MCF-7	breast:
2	chr8:104285760..104288656-chr8:104356267..104358351,3	K562	blood:
3	chr8:104350988..104353935-chr8:104356214..104358122,2	K562	blood:
4	chr8:104352561..104355650-chr8:104357205..104359647,3	K562	blood:
5	chr8:104309761..104312845-chr8:104354568..104359504,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1004468	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10505042	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1053917	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1095713	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1095714	0.87[ASN][1000 genomes]
rs11781252	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11987172	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12164188	0.94[ASN][1000 genomes]
rs12546491	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12550097	0.92[ASN][1000 genomes]
rs1357354	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1370008	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1370009	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1464550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464552	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522708	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1522710	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1522711	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1522712	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs16870346	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1851483	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1916117	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010308	0.97[ASN][1000 genomes]
rs2388532	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2642363	0.87[ASN][1000 genomes]
rs2642364	0.87[ASN][1000 genomes]
rs2642366	0.87[ASN][1000 genomes]
rs2642368	0.87[ASN][1000 genomes]
rs2687351	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28392906	0.88[ASN][1000 genomes]
rs2917550	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2934719	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2948447	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3104033	0.82[GIH][hapmap]
rs3133827	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3133837	0.82[GIH][hapmap]
rs35019987	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35935697	0.91[ASN][1000 genomes]
rs3736047	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3808553	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs3808554	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs3808556	0.92[ASN][1000 genomes]
rs3808559	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4734698	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62525511	0.92[ASN][1000 genomes]
rs7008838	0.85[ASN][1000 genomes]
rs7012843	0.94[ASN][1000 genomes]
rs827530	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827534	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827535	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827536	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827541	0.82[GIH][hapmap]
rs827547	0.80[EUR][1000 genomes]
rs827550	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827552	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827554	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827579	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827582	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827584	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827585	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs827586	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827587	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827588	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs844136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865461	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs865462	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs827581	FZD6	cis	cerebellum	SCAN
rs827581	KLF10	cis	cerebellum	SCAN
rs827581	SLC25A32	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
3	chr8:104342400-104357600	Weak transcription	Placenta	Placenta
4	chr8:104342400-104360000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:104343800-104357600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:104343800-104357600	Weak transcription	Ovary	ovary
7	chr8:104351800-104360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:104354200-104359800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:104355000-104363200	Enhancers	NHLF	lung
10	chr8:104355200-104358200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:104355200-104361200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:104355400-104358600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:104355600-104360600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:104355600-104361000	Enhancers	NH-A	brain
15	chr8:104355600-104362000	Enhancers	Osteobl	bone
16	chr8:104355600-104362600	Enhancers	NHDF-Ad	bronchial
17	chr8:104355800-104363800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:104356000-104357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:104356000-104358400	Enhancers	HSMMtube	muscle
20	chr8:104356000-104361200	Weak transcription	Gastric	stomach
21	chr8:104356400-104357800	Enhancers	HUVEC	blood vessel
22	chr8:104356600-104357800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:104356800-104358000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:104356800-104360000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:104357000-104357800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:104357000-104357800	Enhancers	Fetal Stomach	stomach
27	chr8:104357000-104357800	Enhancers	Hela-S3	cervix
28	chr8:104357000-104357800	Enhancers	HMEC	breast
29	chr8:104357000-104357800	Enhancers	NHEK	skin
30	chr8:104357000-104358000	Enhancers	Fetal Intestine Small	intestine
31	chr8:104357200-104357800	Enhancers	Aorta	Aorta
32	chr8:104357200-104358000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:104357200-104358000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:104357200-104358600	Enhancers	Fetal Heart	heart
35	chr8:104357200-104360200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:104357200-104360200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:104357400-104357600	Enhancers	Colon Smooth Muscle	Colon
38	chr8:104357400-104357600	Flanking Active TSS	HSMM	muscle
39	chr8:104357400-104357800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:104357400-104357800	Enhancers	Rectal Smooth Muscle	rectum
41	chr8:104357400-104358600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:104357400-104361200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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