Variant report

Variant	rs10774959
Chromosome Location	chr12:118234080-118234081
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	chr12:118233366..118234895-chr12:118237416..118240307,2	MCF-7	breast:
2	chr12:118154056..118156938-chr12:118233269..118235740,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1020401	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10744903	0.80[AMR][1000 genomes]
rs10744904	0.80[AMR][1000 genomes]
rs10774952	0.81[ASN][1000 genomes]
rs10774953	0.80[AMR][1000 genomes]
rs10774954	0.80[AMR][1000 genomes]
rs10774955	0.80[AMR][1000 genomes]
rs10774957	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774958	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10850899	0.81[AMR][1000 genomes]
rs11068676	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1318179	0.85[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1530540	0.81[AMR][1000 genomes]
rs1530541	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1812316	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1986790	0.80[AMR][1000 genomes]
rs4766873	0.80[AMR][1000 genomes]
rs4766875	0.81[AMR][1000 genomes]
rs4767616	0.80[AMR][1000 genomes]
rs4767618	0.80[AMR][1000 genomes]
rs4767619	0.80[AMR][1000 genomes]
rs7296788	0.93[ASN][1000 genomes]
rs7314496	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7315728	0.82[ASN][1000 genomes]
rs764402	0.80[AMR][1000 genomes]
rs7963245	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs921061	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921062	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979721	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979722	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979723	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv560387	chr12:118219415-118239673	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	esv3335627	chr12:118229369-118234167	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10774959	TBX5	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118232600-118246400	Weak transcription	Pancreas	Pancrea
2	chr12:118232800-118239400	Weak transcription	Placenta Amnion	Placenta Amnion

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