Variant report

Variant	rs11866403
Chromosome Location	chr16:70666410-70666411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70556957..70559700-chr16:70665193..70666930,2	MCF-7	breast:
2	chr16:70663642..70666612-chr16:70674243..70676912,2	K562	blood:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11865804	0.87[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12596475	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12598248	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12598251	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12598456	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12598945	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12598955	0.87[ASN][1000 genomes]
rs12919296	0.87[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12919451	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12920334	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12920529	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12923477	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923630	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923637	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12924304	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12925493	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12926402	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12929463	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12929508	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12935541	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329733	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970408	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33998678	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34426756	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34644948	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34692833	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34811595	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34881169	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35283920	0.81[EUR][1000 genomes]
rs35285555	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290416	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35381200	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35437297	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35794088	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36097154	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813905	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985413	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985414	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4985415	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985546	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985549	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985550	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985551	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985552	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4985553	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55872380	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56220651	0.96[ASN][1000 genomes]
rs57738457	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61170208	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68049363	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71401818	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191249	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7192723	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7198170	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8060584	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8061329	1.00[ASN][1000 genomes]
rs9933834	0.90[TSI][hapmap];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic 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 target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11866403	EXOSC6	cis	parietal	SCAN
rs11866403	WWP2	cis	parietal	SCAN
rs11866403	SF3B3	cis	parietal	SCAN
rs11866403	SF3B3	cis	cerebellum	SCAN
rs11866403	ZFP90	cis	parietal	SCAN
rs11866403	PDPR	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70647400-70669200	Weak transcription	Right Atrium	heart
2	chr16:70659200-70668800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:70661200-70669000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:70663000-70669000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:70663400-70668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:70665200-70668800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:70665200-70669000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:70665400-70669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:70665400-70669200	Weak transcription	Fetal Intestine Small	intestine
10	chr16:70665600-70666600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:70665600-70668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:70666000-70666600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:70666000-70669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
15	chr16:70666200-70666600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr16:70666200-70669200	Weak transcription	Ovary	ovary
17	chr16:70666400-70666600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr16:70666400-70666600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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