Variant report

Variant	rs10759657
Chromosome Location	chr9:100159192-100159193
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	chr9:100158859..100160754-chr9:100392262..100394128,2	K562	blood:
2	chr9:100158999..100160647-chr9:100162275..100163910,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10122063	0.92[EUR][1000 genomes]
rs10125198	0.91[EUR][1000 genomes]
rs1020884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1020885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1037948	0.91[EUR][1000 genomes]
rs1037950	0.97[EUR][1000 genomes]
rs1037951	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10435868	0.91[EUR][1000 genomes]
rs10448274	0.91[EUR][1000 genomes]
rs10759624	0.90[EUR][1000 genomes]
rs10817487	0.91[EUR][1000 genomes]
rs10981890	0.90[EUR][1000 genomes]
rs10981919	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10981931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542506	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1947717	0.92[EUR][1000 genomes]
rs2242187	0.93[EUR][1000 genomes]
rs2279114	0.95[EUR][1000 genomes]
rs2306097	0.91[EUR][1000 genomes]
rs3747489	0.93[EUR][1000 genomes]
rs3747493	0.93[EUR][1000 genomes]
rs3747496	0.88[EUR][1000 genomes]
rs3802471	0.92[EUR][1000 genomes]
rs4237189	0.88[EUR][1000 genomes]
rs4313271	0.91[EUR][1000 genomes]
rs4366181	0.92[EUR][1000 genomes]
rs4523385	0.97[EUR][1000 genomes]
rs4554595	0.91[EUR][1000 genomes]
rs4742685	0.89[EUR][1000 genomes]
rs4742689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743076	0.89[EUR][1000 genomes]
rs4743077	0.89[EUR][1000 genomes]
rs4743084	0.94[EUR][1000 genomes]
rs4743088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6478095	0.89[EUR][1000 genomes]
rs6478131	0.95[EUR][1000 genomes]
rs7869536	0.95[EUR][1000 genomes]
rs9696167	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036105	chr9:100131266-100171816	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10759657	RP11-520B13.4	cis	Esophagus Muscularis	GTEx
rs10759657	RP11-520B13.4	cis	Thyroid	GTEx
rs10759657	VN1R51P	cis	Thyroid	GTEx
rs10759657	ANKRD18CP	cis	Thyroid	GTEx
rs10759657	RP11-498P14.5	cis	lung	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100149600-100161400	Weak transcription	Right Atrium	heart
2	chr9:100153000-100159200	Weak transcription	GM12878-XiMat	blood
3	chr9:100157400-100161800	Weak transcription	Thymus	Thymus
4	chr9:100157800-100162000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:100159000-100160400	Weak transcription	HepG2	liver
6	chr9:100159000-100160600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:100159000-100161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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