Variant report

Variant	rs10808664
Chromosome Location	chr8:94991734-94991735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94928511..94930316-chr8:94990324..94992311,2	MCF-7	breast:
2	chr8:94987851..94989359-chr8:94989772..94991888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264448	Chromatin interaction
ENSG00000164951	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10454346	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10454352	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10464832	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808665	0.89[EUR][1000 genomes]
rs10956891	0.89[EUR][1000 genomes]
rs10956892	0.81[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs10956893	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774322	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11783696	0.87[EUR][1000 genomes]
rs11784805	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11787272	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12675328	0.86[EUR][1000 genomes]
rs12681770	0.89[EUR][1000 genomes]
rs12681774	0.89[EUR][1000 genomes]
rs16916334	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs16916340	0.89[EUR][1000 genomes]
rs16916344	0.89[EUR][1000 genomes]
rs3115942	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3115943	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3115947	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134014	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134015	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134018	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134019	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134020	0.85[EUR][1000 genomes]
rs4236822	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236823	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4391396	0.92[CEU][hapmap];0.87[GIH][hapmap];0.85[EUR][1000 genomes]
rs4397372	0.87[EUR][1000 genomes]
rs4415280	0.90[EUR][1000 genomes]
rs4483119	0.89[EUR][1000 genomes]
rs4489299	0.89[EUR][1000 genomes]
rs4496935	0.89[EUR][1000 genomes]
rs4579497	0.85[EUR][1000 genomes]
rs55813436	0.88[EUR][1000 genomes]
rs59369332	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62523012	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62523013	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471417	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67035385	0.88[EUR][1000 genomes]
rs7812529	0.87[EUR][1000 genomes]
rs7817292	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7831416	0.87[EUR][1000 genomes]
rs7835189	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][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	nsv518975	chr8:94985722-94992958	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10808664	RPL30	cis	parietal	SCAN
rs10808664	TMEM67	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94989600-94994400	Enhancers	Fetal Intestine Small	intestine
2	chr8:94990800-94992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:94991200-94991800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:94991200-94992600	Enhancers	Gastric	stomach
5	chr8:94991200-94993000	Enhancers	Pancreas	Pancrea
6	chr8:94991200-94993200	Enhancers	Stomach Mucosa	stomach
7	chr8:94991200-94993600	Enhancers	Ovary	ovary
8	chr8:94991200-94994400	Enhancers	Fetal Intestine Large	intestine
9	chr8:94991400-94992400	Enhancers	Placenta	Placenta
10	chr8:94991400-94993400	Enhancers	Fetal Lung	lung
11	chr8:94991400-94993400	Weak transcription	HMEC	breast
12	chr8:94991600-94993200	Enhancers	Duodenum Smooth Muscle	Duodenum

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