Variant report

Variant	rs17083278
Chromosome Location	chr5:92989489-92989490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92987752..92989863-chr5:92996146..92998098,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10038831	0.86[JPT][hapmap]
rs10041792	0.86[JPT][hapmap]
rs1004941	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs10050364	0.85[JPT][hapmap]
rs10051878	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10057664	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs10060331	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs10067541	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs10071040	0.86[JPT][hapmap]
rs10075217	0.85[CHD][hapmap];0.86[JPT][hapmap]
rs1031424	0.82[JPT][hapmap]
rs1038686	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1046217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10476520	0.86[JPT][hapmap]
rs10514376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12186878	0.92[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs13154650	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs13155452	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs13156202	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs13161885	0.86[JPT][hapmap]
rs13164315	0.86[JPT][hapmap]
rs13357713	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1349711	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1453003	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1470150	0.87[CHD][hapmap]
rs17083280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083297	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17083377	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17312456	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17372615	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17372649	0.86[JPT][hapmap]
rs17372725	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1844343	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1901736	0.86[JPT][hapmap]
rs1982439	0.86[JPT][hapmap]
rs2924374	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs3776601	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56069221	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56259161	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57924239	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58143801	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58237393	0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58919600	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59544418	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60553989	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60827958	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61110137	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61429325	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6556828	1.00[ASW][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6556829	0.88[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556834	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6877616	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6879620	0.86[JPT][hapmap]
rs6881815	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6884138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6890998	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6892853	0.87[ASN][1000 genomes]
rs6895356	0.86[JPT][hapmap]
rs6898507	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs73135334	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73135354	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135367	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73135371	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73135373	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135374	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73135376	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73135377	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702348	0.86[JPT][hapmap]
rs7702649	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs7704972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7710106	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7712388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7713956	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs7717718	0.86[JPT][hapmap]
rs7721168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7721509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7731223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7736624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9314086	0.87[CHD][hapmap];0.86[JPT][hapmap]

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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1797162	chr5:92972389-92989773	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17083278	ANKRD32	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92961400-93007000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:92987000-93015400	Weak transcription	Primary hematopoietic stem cells	blood

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