Variant report

Variant	rs17071744
Chromosome Location	chr13:80247770-80247771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12583029	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12583361	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12853669	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12872859	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12873323	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12873970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12874186	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17071691	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17071740	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17071769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208937	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329127	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28882153	0.81[AMR][1000 genomes]
rs34574726	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34629137	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34757198	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34993149	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335681	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506784	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4597201	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55902954	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58360508	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60407730	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6563120	0.90[EUR][1000 genomes]
rs6563123	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6563128	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6563130	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71436528	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71436529	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7324718	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324768	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7329850	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7333290	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7335083	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7983451	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7983467	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7999478	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8001082	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80233400-80248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80238600-80255000	Weak transcription	Psoas Muscle	Psoas
3	chr13:80242800-80250400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:80243200-80250400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:80245000-80247800	Weak transcription	Esophagus	oesophagus
6	chr13:80246200-80248000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr13:80246400-80249000	Weak transcription	Pancreas	Pancrea
8	chr13:80246600-80248000	Enhancers	Fetal Muscle Leg	muscle
9	chr13:80246600-80260600	Weak transcription	Fetal Lung	lung
10	chr13:80247200-80248200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:80247200-80248400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:80247400-80247800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:80247400-80248000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:80247400-80248000	Enhancers	Left Ventricle	heart
15	chr13:80247400-80248200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:80247400-80248200	Enhancers	Adipose Nuclei	Adipose
17	chr13:80247400-80248600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:80247400-80248600	Enhancers	HSMMtube	muscle
19	chr13:80247400-80249000	Enhancers	Fetal Heart	heart
20	chr13:80247600-80248000	Enhancers	Right Atrium	heart
21	chr13:80247600-80248200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:80247600-80248200	Enhancers	Ovary	ovary
23	chr13:80247600-80248600	Enhancers	Skeletal Muscle Male	skeletal muscle

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