Variant report

Variant	rs2120535
Chromosome Location	chr6:82093262-82093263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10455383	0.84[ASN][1000 genomes]
rs10943804	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1159210	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12193166	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12196179	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12208911	0.84[ASN][1000 genomes]
rs12663202	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12663806	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12664134	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343241	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1819754	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1857305	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1899790	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2197335	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2323251	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35055394	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4706140	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4706886	0.84[ASN][1000 genomes]
rs4706887	0.84[ASN][1000 genomes]
rs4706888	0.84[ASN][1000 genomes]
rs4706889	0.87[ASN][1000 genomes]
rs57513743	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6900044	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs6935182	0.87[ASN][1000 genomes]
rs6942063	0.86[ASN][1000 genomes]
rs7741650	0.84[ASN][1000 genomes]
rs9294223	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9341883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9344165	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs996136	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604087	chr6:81792413-82326091	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1032655	chr6:81942397-82225830	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886328	chr6:82036764-82120647	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv34899	chr6:82090758-82161121	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2120535	IBTK	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82091200-82093600	Enhancers	HepG2	liver
2	chr6:82092600-82093600	Enhancers	Fetal Heart	heart
3	chr6:82092800-82093800	Enhancers	Dnd41	blood
4	chr6:82093000-82096600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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