Variant report

Variant	rs16931326
Chromosome Location	chr8:65495333-65495334
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	chr8:65493626-65495347	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
3	POLR2A	chr8:65495145-65496173	H1-neurons	neurons:	n/a	n/a
4	CUX1	chr8:65495206-65495607	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:65491319-65495630	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254102	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10957322	0.87[GIH][hapmap]
rs11984829	0.84[GIH][hapmap]
rs11992694	0.84[GIH][hapmap]
rs11996540	0.87[GIH][hapmap]
rs12682355	1.00[ASN][1000 genomes]
rs13258167	0.84[GIH][hapmap]
rs13272719	0.87[GIH][hapmap]
rs16931308	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16931352	0.93[GIH][hapmap]
rs16931374	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1839878	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28391816	0.85[EUR][1000 genomes]
rs2884073	0.81[GIH][hapmap]
rs3779871	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes]
rs41333745	0.93[GIH][hapmap]
rs4263804	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4358837	1.00[CEU][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes]
rs4385495	0.84[GIH][hapmap]
rs4480156	0.87[GIH][hapmap]
rs4521800	0.83[EUR][1000 genomes]
rs4543580	0.81[EUR][1000 genomes]
rs4737202	0.83[EUR][1000 genomes]
rs4737677	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs4737678	0.87[GIH][hapmap]
rs4737680	0.87[GIH][hapmap]
rs4737681	0.87[GIH][hapmap]
rs4737684	0.83[EUR][1000 genomes]
rs55852316	0.83[EUR][1000 genomes]
rs56682216	0.83[EUR][1000 genomes]
rs57071798	0.85[EUR][1000 genomes]
rs57148757	0.83[EUR][1000 genomes]
rs57948164	0.83[EUR][1000 genomes]
rs58284770	0.83[EUR][1000 genomes]
rs58303167	0.83[EUR][1000 genomes]
rs58420338	0.83[EUR][1000 genomes]
rs58451406	0.83[EUR][1000 genomes]
rs58668371	0.83[EUR][1000 genomes]
rs60551204	0.83[EUR][1000 genomes]
rs6981395	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6997421	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7009078	0.84[GIH][hapmap]
rs7012812	0.83[EUR][1000 genomes]
rs73688006	0.83[EUR][1000 genomes]
rs73688014	0.83[EUR][1000 genomes]
rs73688018	0.83[EUR][1000 genomes]
rs73688022	0.83[EUR][1000 genomes]
rs73688285	0.83[EUR][1000 genomes]
rs73688286	0.83[EUR][1000 genomes]
rs73688293	0.83[EUR][1000 genomes]
rs73688294	0.83[EUR][1000 genomes]
rs73688300	0.83[EUR][1000 genomes]
rs73688301	0.83[EUR][1000 genomes]
rs73689569	0.83[EUR][1000 genomes]
rs73689574	0.83[EUR][1000 genomes]
rs73689575	0.83[EUR][1000 genomes]
rs7812644	0.87[GIH][hapmap]
rs7826214	0.87[GIH][hapmap]
rs9918785	0.83[EUR][1000 genomes]
rs9918790	0.84[GIH][hapmap]

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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3401021	chr8:65492623-65495371	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65491800-65496000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr8:65493200-65495400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
3	chr8:65494200-65496600	Bivalent/Poised TSS	Fetal Brain Male	brain
4	chr8:65494600-65496200	Active TSS	GM12878-XiMat	blood
5	chr8:65494800-65498200	Weak transcription	Pancreas	Pancrea
6	chr8:65495000-65495400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:65495000-65495400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
8	chr8:65495000-65496200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr8:65495200-65495400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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