Variant report

Variant	rs12864008
Chromosome Location	chr13:53632145-53632146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12865218	0.88[ASN][1000 genomes]
rs12866736	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868253	0.92[ASN][1000 genomes]
rs12876387	0.91[ASN][1000 genomes]
rs12877178	0.88[ASN][1000 genomes]
rs17053814	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs17053823	0.97[ASN][1000 genomes]
rs17053844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17053849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17053872	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1891947	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275840	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2799344	0.82[ASN][1000 genomes]
rs2799345	0.87[ASN][1000 genomes]
rs34110102	1.00[ASN][1000 genomes]
rs34162017	0.91[ASN][1000 genomes]
rs34163916	0.82[ASN][1000 genomes]
rs34211399	0.88[ASN][1000 genomes]
rs34298498	0.92[ASN][1000 genomes]
rs34330988	0.93[ASN][1000 genomes]
rs34374288	1.00[ASN][1000 genomes]
rs34642277	0.89[ASN][1000 genomes]
rs34708622	0.85[ASN][1000 genomes]
rs35003538	0.82[ASN][1000 genomes]
rs35007240	0.82[ASN][1000 genomes]
rs35121580	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35137422	0.89[ASN][1000 genomes]
rs35226075	0.93[ASN][1000 genomes]
rs35397855	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35472513	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35559066	0.86[ASN][1000 genomes]
rs35575822	0.88[ASN][1000 genomes]
rs35625606	0.91[ASN][1000 genomes]
rs35666947	0.93[ASN][1000 genomes]
rs35727089	0.93[ASN][1000 genomes]
rs35756659	0.93[ASN][1000 genomes]
rs35765587	0.89[ASN][1000 genomes]
rs36081995	1.00[ASN][1000 genomes]
rs57454139	0.82[ASN][1000 genomes]
rs59345770	1.00[ASN][1000 genomes]
rs59513810	0.93[ASN][1000 genomes]
rs61950074	0.81[ASN][1000 genomes]
rs61950491	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61950492	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61950504	0.89[ASN][1000 genomes]
rs61950522	0.82[ASN][1000 genomes]
rs74086489	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53619400-53633000	Weak transcription	Pancreas	Pancrea
2	chr13:53625000-53638800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:53627000-53632200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:53627000-53632200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:53627000-53632200	Weak transcription	Fetal Stomach	stomach
6	chr13:53628000-53632400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:53628400-53632600	Weak transcription	Brain Angular Gyrus	brain
8	chr13:53629200-53632200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:53630400-53632200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:53631000-53633200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:53631200-53633400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:53632000-53633200	Enhancers	Brain Hippocampus Middle	brain
13	chr13:53632000-53633200	Enhancers	Brain Substantia Nigra	brain

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