Variant report

Variant	rs920047
Chromosome Location	chr8:11087475-11087476
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	chr8:11011361..11013679-chr8:11086642..11088741,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10105588	1.00[CHD][hapmap]
rs10282848	1.00[CHD][hapmap]
rs10503420	1.00[CHD][hapmap]
rs11778398	1.00[CHD][hapmap]
rs13260727	1.00[CHD][hapmap]
rs17152862	1.00[CHD][hapmap]
rs17152978	1.00[CHD][hapmap]
rs17153088	1.00[CHD][hapmap]
rs2246606	1.00[CHD][hapmap]
rs2249804	1.00[CHD][hapmap]
rs2250028	1.00[CHD][hapmap]
rs2409718	0.80[TSI][hapmap]
rs2409756	1.00[CHD][hapmap]
rs2572386	1.00[CHD][hapmap]
rs2736295	1.00[CHD][hapmap]
rs2736313	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3021494	0.82[TSI][hapmap]
rs6601564	0.84[TSI][hapmap]
rs6601570	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7010590	0.80[GIH][hapmap]
rs7819412	0.80[TSI][hapmap]

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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs920047	FLJ10661	cis	cerebellum	SCAN
rs920047	FAM167A	cis	parietal	SCAN
rs920047	DEFB136	cis	parietal	SCAN
rs920047	TDH	cis	parietal	SCAN
rs920047	PRSS55	cis	cerebellum	SCAN
rs920047	TDH	cis	cerebellum	SCAN
rs920047	DEFB134	cis	cerebellum	SCAN
rs920047	CTSB	cis	lymphoblastoid	seeQTL
rs920047	MFHAS1	cis	cerebellum	SCAN
rs920047	DEFB134	cis	parietal	SCAN
rs920047	CTSB	cis	cerebellum	SCAN
rs920047	C8orf13	cis	multi-tissue	Pritchard
rs920047	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11085400-11087600	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr8:11087000-11087800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:11087000-11087800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:11087200-11087800	Bivalent Enhancer	Brain Germinal Matrix	brain
5	chr8:11087200-11088000	Enhancers	Gastric	stomach
6	chr8:11087400-11087800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11087400-11087800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr8:11087400-11087800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr8:11087400-11087800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:11087400-11088200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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