Variant report

Variant	rs11789463
Chromosome Location	chr9:16836011-16836012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:16835821-16836186	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
BNC2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10756812	1.00[LWK][hapmap]
rs10810638	1.00[LWK][hapmap];0.80[MEX][hapmap];0.91[AFR][1000 genomes]
rs10962599	1.00[LWK][hapmap]
rs10962623	0.81[CEU][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10962626	0.84[AMR][1000 genomes]
rs10962628	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10962629	0.90[AMR][1000 genomes]
rs10962630	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11788101	0.87[AMR][1000 genomes]
rs11795031	1.00[LWK][hapmap]
rs34790477	0.87[AMR][1000 genomes]
rs36067353	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3936215	1.00[ASW][hapmap];0.81[CEU][hapmap];0.89[MEX][hapmap];0.88[AMR][1000 genomes]
rs3936216	0.81[CEU][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes]
rs7024447	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892651	chr9:16816755-16869240	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11789463	MPDZ	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16829200-16852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16829400-16836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:16829400-16839800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:16829800-16864200	Weak transcription	NH-A	brain
5	chr9:16831000-16837400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:16831000-16859600	Weak transcription	HSMM	muscle
7	chr9:16831200-16852600	Weak transcription	Fetal Lung	lung
8	chr9:16831200-16863400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:16831200-16864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:16831400-16836400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:16831400-16837600	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:16833800-16837400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:16833800-16863800	Weak transcription	NHLF	lung
14	chr9:16834200-16840200	Weak transcription	Ovary	ovary
15	chr9:16834400-16836200	Enhancers	NHDF-Ad	bronchial
16	chr9:16834600-16852600	Weak transcription	Fetal Stomach	stomach
17	chr9:16834800-16838200	Weak transcription	Fetal Intestine Large	intestine
18	chr9:16834800-16838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:16834800-16840400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:16835200-16848400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:16835800-16836400	Enhancers	Osteobl	bone

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