Variant report

Variant	rs6593534
Chromosome Location	chr1:76854291-76854292
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11162127	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11162130	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12122625	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12123443	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12123510	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12133165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12144344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12239582	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs12753314	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1359469	0.94[ASN][1000 genomes]
rs1540963	0.96[ASN][1000 genomes]
rs1540964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1570825	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1952021	0.99[ASN][1000 genomes]
rs2031483	1.00[ASN][1000 genomes]
rs2209458	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2392034	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2893413	0.99[ASN][1000 genomes]
rs59741131	0.99[ASN][1000 genomes]
rs6593533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs942699	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9437139	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9437145	0.99[ASN][1000 genomes]
rs9437429	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9437435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv462006	chr1:76826279-77042405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv546585	chr1:76826279-77042405	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76847600-76857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:76852000-76856000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:76853800-76854400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:76853800-76854600	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:76853800-76854600	Enhancers	Fetal Heart	heart
6	chr1:76854200-76855200	Enhancers	Small Intestine	intestine
7	chr1:76854200-76856400	Enhancers	Cortex derived primary cultured neurospheres	brain

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