Variant report

Variant	rs10769253
Chromosome Location	chr11:47362339-47362340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47265171..47267198-chr11:47359586..47362493,2	K562	blood:
2	chr11:47352349..47353915-chr11:47361681..47363878,2	MCF-7	breast:
3	chr11:47359409..47362242-chr11:47362245..47364967,2	MCF-7	breast:
4	chr11:47357637..47360736-chr11:47361620..47364167,4	K562	blood:
5	chr11:47358496..47361439-chr11:47361620..47365193,4	K562	blood:
6	chr11:47355176..47357449-chr11:47361021..47363432,2	K562	blood:
7	chr11:47354148..47357317-chr11:47361021..47366088,5	K562	blood:

Variant related genes	Relation type
ENSG00000134575	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1051006	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1052373	0.82[MEX][hapmap]
rs10769254	0.85[CHB][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769255	0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838663	0.80[CEU][hapmap]
rs10838681	0.86[MEX][hapmap]
rs10838685	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10838686	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10838687	0.95[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs10838689	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10838692	0.82[MEX][hapmap]
rs11039155	0.86[EUR][1000 genomes]
rs11039189	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11493249	0.97[EUR][1000 genomes]
rs11530166	0.84[AMR][1000 genomes]
rs11821917	0.81[CEU][hapmap]
rs11824864	0.81[CEU][hapmap]
rs11828339	0.81[CEU][hapmap]
rs12574081	0.86[EUR][1000 genomes]
rs12574410	0.80[CEU][hapmap]
rs1449626	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1449627	0.82[MEX][hapmap]
rs17198158	0.81[CEU][hapmap]
rs17790804	0.81[CEU][hapmap]
rs2242261	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2242262	0.80[CEU][hapmap]
rs2242511	0.89[CEU][hapmap]
rs2254240	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2279238	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2290146	0.90[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290148	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306353	0.80[CEU][hapmap]
rs2957873	0.82[MEX][hapmap]
rs3729802	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3729804	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3729805	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781619	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs3824866	0.80[CEU][hapmap]
rs3847503	0.81[CEU][hapmap]
rs4752783	0.81[CEU][hapmap]
rs4752839	0.81[CEU][hapmap]
rs4752973	1.00[MEX][hapmap]
rs4752977	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4752978	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4752979	0.86[AMR][1000 genomes]
rs4752983	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58023804	0.97[EUR][1000 genomes]
rs59567949	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6485751	0.86[AMR][1000 genomes]
rs7118396	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs7120118	0.82[MEX][hapmap]
rs7124958	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7395496	0.80[CEU][hapmap]
rs753812	0.90[CEU][hapmap]
rs753992	1.00[CEU][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7928073	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830085	0.82[MEX][hapmap]
rs9666924	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv554209	chr11:47353498-47364127	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10769253	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs10769253	ACP2	cis	multi-tissue	Pritchard
rs10769253	ACP2	cis	lymphoblastoid	seeQTL
rs10769253	ACP2	cis	Thyroid	GTEx
rs10769253	PTPMT1	cis	parietal	SCAN
rs10769253	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:47352400-47364000	Weak transcription	Lung	lung
4	chr11:47352600-47363200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47352600-47366000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:47353600-47362800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:47354000-47369800	Weak transcription	Right Atrium	heart
9	chr11:47354400-47362600	Weak transcription	Fetal Intestine Small	intestine
10	chr11:47354800-47372800	Weak transcription	Gastric	stomach
11	chr11:47355000-47362800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:47356800-47367200	Strong transcription	Right Ventricle	heart
13	chr11:47358400-47363600	Enhancers	Placenta	Placenta
14	chr11:47358400-47364000	Genic enhancers	Fetal Heart	heart
15	chr11:47359800-47363600	Strong transcription	Left Ventricle	heart
16	chr11:47360000-47363200	Weak transcription	Hela-S3	cervix
17	chr11:47360800-47362800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:47361000-47364000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:47361200-47364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:47361400-47363600	Weak transcription	Spleen	Spleen
21	chr11:47361400-47364000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:47361600-47362400	Enhancers	K562	blood
23	chr11:47361800-47363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:47362000-47362400	Weak transcription	Monocytes-CD14+_RO01746	blood

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