Variant report

Variant	rs2275840
Chromosome Location	chr13:53617421-53617422
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10507575	0.90[TSI][hapmap]
rs12860364	0.89[TSI][hapmap]
rs12864008	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12865218	0.81[ASN][1000 genomes]
rs12866736	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12868253	0.84[ASN][1000 genomes]
rs12876387	0.84[ASN][1000 genomes]
rs12877178	0.81[ASN][1000 genomes]
rs17053814	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17053823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17053844	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17053849	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17053872	0.89[ASN][1000 genomes]
rs1891947	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2806957	0.90[TSI][hapmap]
rs34110102	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34162017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34211399	0.81[ASN][1000 genomes]
rs34298498	0.84[ASN][1000 genomes]
rs34330988	0.85[ASN][1000 genomes]
rs34374288	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34642277	0.81[ASN][1000 genomes]
rs34708622	0.93[ASN][1000 genomes]
rs34775431	0.87[AMR][1000 genomes]
rs35121580	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35137422	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35226075	0.85[ASN][1000 genomes]
rs35397855	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35412628	0.87[AMR][1000 genomes]
rs35472513	0.89[ASN][1000 genomes]
rs35559066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35575822	0.81[ASN][1000 genomes]
rs35625606	0.83[ASN][1000 genomes]
rs35666947	0.85[ASN][1000 genomes]
rs35727089	0.85[ASN][1000 genomes]
rs35756659	0.85[ASN][1000 genomes]
rs35765587	0.81[ASN][1000 genomes]
rs36081995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59345770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59513810	0.85[ASN][1000 genomes]
rs61950491	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61950492	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61950504	0.81[ASN][1000 genomes]
rs74086489	0.81[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53601200-53620000	Weak transcription	Spleen	Spleen
2	chr13:53603200-53619000	Weak transcription	Pancreas	Pancrea
3	chr13:53609000-53626400	Weak transcription	Small Intestine	intestine
4	chr13:53610800-53628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:53615000-53619200	Weak transcription	Adipose Nuclei	Adipose
6	chr13:53616000-53620600	Enhancers	Fetal Muscle Leg	muscle
7	chr13:53616400-53618400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:53616600-53620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:53616800-53617600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:53616800-53621400	Enhancers	Fetal Stomach	stomach
11	chr13:53617000-53619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:53617000-53619400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:53617200-53617600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:53617200-53617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:53617200-53617800	Enhancers	Fetal Lung	lung
16	chr13:53617200-53618000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:53617200-53619400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:53617400-53618400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr13:53617400-53618600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr13:53617400-53619800	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:53617400-53621800	Genic enhancers	Duodenum Mucosa	Duodenum

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