Variant report

Variant	rs9310648
Chromosome Location	chr3:21550556-21550557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:21547308..21549346-chr3:21549742..21551685,2	K562	blood:
2	chr3:21541046..21543209-chr3:21550142..21552460,2	K562	blood:
3	chr3:21550526..21552335-chr3:21623798..21625685,2	K562	blood:
4	chr3:21541046..21543947-chr3:21550142..21552460,3	K562	blood:

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

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

rs_ID	r²[population]
rs10510513	0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13317601	0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs1457590	0.96[CEU][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162411	0.85[JPT][hapmap]
rs162412	0.85[JPT][hapmap]
rs163482	0.80[JPT][hapmap]
rs1811402	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1978516	0.92[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1983039	0.95[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059400	0.90[JPT][hapmap]
rs233143	0.82[JPT][hapmap]
rs233156	0.80[JPT][hapmap]
rs3860577	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3860578	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858328	0.83[JPT][hapmap]
rs4858329	0.85[JPT][hapmap]
rs6789053	0.90[JPT][hapmap]
rs7615120	0.90[JPT][hapmap]
rs7637649	0.80[JPT][hapmap]
rs7642500	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs7646837	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.80[ASN][1000 genomes]
rs920118	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs920119	0.82[JPT][hapmap]
rs9310647	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9310649	0.90[JPT][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes]
rs9810352	0.85[JPT][hapmap]
rs9829496	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs9862072	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9862207	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006471	chr3:21385627-21596955	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1000828	chr3:21399870-21565580	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv536515	chr3:21399870-21565580	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9310648	TBC1D5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21515800-21563000	Weak transcription	Fetal Stomach	stomach
2	chr3:21526200-21559000	Weak transcription	Aorta	Aorta
3	chr3:21537600-21551400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21541000-21555200	Weak transcription	Left Ventricle	heart
5	chr3:21541200-21554800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:21549200-21552200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:21549400-21551000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr3:21549600-21551000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:21550000-21561800	Weak transcription	Fetal Brain Male	brain

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