Variant report

Variant	rs9300011
Chromosome Location	chr11:32486962-32486963
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	chr11:32486682..32489640-chr11:32492435..32494827,2	K562	blood:
2	chr11:32460248..32463699-chr11:32486018..32490383,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10219285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031799	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031801	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031813	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272661	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12276814	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277550	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282084	0.93[EUR][1000 genomes]
rs12789194	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789525	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12790633	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794418	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798270	0.86[EUR][1000 genomes]
rs12805730	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12808723	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748371	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35128594	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35245711	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508	0.82[JPT][hapmap]
rs7105964	1.00[JPT][hapmap]
rs7113208	0.97[EUR][1000 genomes]
rs7115617	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118228	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71466594	1.00[ASN][1000 genomes]
rs9300012	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300013	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9300011	RNF217	trans	lymphoblastoid	seeQTL
rs9300011	DEPDC7	cis	lymphoblastoid	seeQTL
rs9300011	MPP1	trans	lymphoblastoid	seeQTL
rs9300011	LMO3	trans	lymphoblastoid	seeQTL
rs9300011	TJP1	trans	lymphoblastoid	seeQTL
rs9300011	STEAP1	trans	lymphoblastoid	seeQTL
rs9300011	MTTP	trans	lymphoblastoid	seeQTL
rs9300011	GAS2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32469000-32487800	Weak transcription	Ovary	ovary
2	chr11:32475200-32487600	Weak transcription	Fetal Kidney	kidney

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