Variant report

Variant	rs17071815
Chromosome Location	chr13:80316123-80316124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12583646	0.99[ASN][1000 genomes]
rs12583817	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12584347	0.96[ASN][1000 genomes]
rs12584389	0.96[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12584683	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12585395	0.96[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1335287	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1414111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1577405	0.96[EUR][1000 genomes]
rs17189468	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17793708	0.89[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs57650273	0.94[ASN][1000 genomes]
rs7330531	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099688	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74099689	0.97[ASN][1000 genomes]
rs74099690	0.97[ASN][1000 genomes]
rs74099693	0.95[ASN][1000 genomes]
rs74099696	0.96[ASN][1000 genomes]
rs74099698	0.96[ASN][1000 genomes]
rs74099699	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80309800-80324400	Weak transcription	Right Atrium	heart
2	chr13:80310400-80319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:80311400-80318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:80311400-80324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:80311600-80317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:80311600-80323800	Weak transcription	HMEC	breast
7	chr13:80313800-80316200	Enhancers	Fetal Kidney	kidney
8	chr13:80314800-80316200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:80315000-80316200	Enhancers	Fetal Lung	lung
10	chr13:80315400-80317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:80315400-80317000	Weak transcription	Esophagus	oesophagus
12	chr13:80315400-80317000	Weak transcription	Ovary	ovary
13	chr13:80315400-80317000	Weak transcription	NHEK	skin
14	chr13:80315400-80319400	Weak transcription	Left Ventricle	heart
15	chr13:80315400-80323000	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:80315400-80324400	Weak transcription	Pancreas	Pancrea
17	chr13:80315400-80324400	Weak transcription	Small Intestine	intestine
18	chr13:80315600-80316200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:80315600-80317200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:80315800-80318800	Weak transcription	Fetal Stomach	stomach
21	chr13:80315800-80323000	Weak transcription	Fetal Heart	heart
22	chr13:80315800-80324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:80316000-80317800	Enhancers	Hela-S3	cervix

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