Variant report

Variant	rs6862592
Chromosome Location	chr5:93909599-93909600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10035632	0.87[ASN][1000 genomes]
rs10037228	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041262	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041551	0.87[ASN][1000 genomes]
rs10041843	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044797	0.87[ASN][1000 genomes]
rs10051931	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10053484	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058130	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058618	0.87[ASN][1000 genomes]
rs10061737	0.87[ASN][1000 genomes]
rs10062248	0.87[ASN][1000 genomes]
rs10076188	0.87[ASN][1000 genomes]
rs10076461	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078049	0.87[ASN][1000 genomes]
rs10078304	0.87[ASN][1000 genomes]
rs10476612	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476613	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10476615	0.87[ASN][1000 genomes]
rs11949227	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955373	0.87[ASN][1000 genomes]
rs11960129	0.87[ASN][1000 genomes]
rs12517866	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518034	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522312	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169956	0.87[ASN][1000 genomes]
rs13353994	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13354061	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358642	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361811	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362556	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645132	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28787271	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs306573	0.87[ASN][1000 genomes]
rs306575	0.87[ASN][1000 genomes]
rs4869215	0.99[AFR][1000 genomes]
rs55974730	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6873364	0.81[ASN][1000 genomes]
rs755898	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725095	0.87[ASN][1000 genomes]
rs7725698	0.87[ASN][1000 genomes]
rs7737779	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1023421	chr5:93679661-93911066	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv964906	chr5:93899345-93909772	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6862592	ANKRD32	Cis_1M	lymphoblastoid	RTeQTL
rs6862592	ANKRD32	cis	multi-tissue	Pritchard
rs6862592	MCTP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93906000-93913200	Weak transcription	Aorta	Aorta
3	chr5:93907800-93912400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr5:93908000-93913200	Weak transcription	Spleen	Spleen
5	chr5:93908400-93916600	Weak transcription	Ovary	ovary
6	chr5:93908800-93909800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:93908800-93914000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:93909000-93909800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:93909000-93909800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:93909000-93915800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:93909200-93909600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:93909200-93915200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:93909400-93909800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:93909400-93911000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:93909400-93913400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:93909400-93915400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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