Variant report

Variant	rs10956893
Chromosome Location	chr8:94987448-94987449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:94706032..94706941-chr8:94987049..94988013,6	MCF-7	breast:
2	chr8:94834234..94835361-chr8:94986945..94988056,10	MCF-7	breast:
3	chr8:94967615..94969465-chr8:94986791..94988525,2	MCF-7	breast:
4	chr8:94928275..94930362-chr8:94987422..94989757,2	MCF-7	breast:
5	chr8:94928011..94930237-chr8:94986282..94987918,2	MCF-7	breast:
6	chr8:94834485..94835366-chr8:94987131..94988250,3	MCF-7	breast:
7	chr8:94577380..94578327-chr8:94987091..94988044,4	MCF-7	breast:
8	chr8:94706225..94706994-chr8:94987102..94988018,5	K562	blood:
9	chr8:94834240..94835236-chr8:94986891..94987651,6	K562	blood:
10	chr8:94705840..94710154-chr8:94987193..94989140,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264448	Chromatin interaction
ENSG00000164951	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10454346	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10454352	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10464832	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808664	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]
rs10808665	0.88[EUR][1000 genomes]
rs10956891	0.90[EUR][1000 genomes]
rs10956892	0.81[CEU][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs11774322	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783696	0.88[EUR][1000 genomes]
rs11784805	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11787272	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12675328	0.85[EUR][1000 genomes]
rs12681770	0.88[EUR][1000 genomes]
rs12681774	0.88[EUR][1000 genomes]
rs16916334	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs16916340	0.88[EUR][1000 genomes]
rs16916344	0.88[EUR][1000 genomes]
rs3115942	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3115943	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3115947	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134014	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134018	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134019	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134020	0.86[EUR][1000 genomes]
rs4236822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4391396	0.92[CEU][hapmap];0.85[GIH][hapmap];0.84[EUR][1000 genomes]
rs4397372	0.87[EUR][1000 genomes]
rs4415280	0.91[EUR][1000 genomes]
rs4483119	0.88[EUR][1000 genomes]
rs4489299	0.88[EUR][1000 genomes]
rs4496935	0.88[EUR][1000 genomes]
rs4579497	0.84[EUR][1000 genomes]
rs55813436	0.89[EUR][1000 genomes]
rs59369332	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62523012	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62523013	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471417	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67035385	0.89[EUR][1000 genomes]
rs7812529	0.88[EUR][1000 genomes]
rs7817292	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831416	0.88[EUR][1000 genomes]
rs7835189	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
rs10956893	TMEM67	cis	parietal	SCAN
rs10956893	RPL30	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94987000-94987800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:94987200-94987600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr8:94987400-94987800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:94987400-94989600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:94987400-94991200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links