Variant report

Variant	rs3898630
Chromosome Location	chr10:54040023-54040024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10824270	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10824297	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10824310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10824321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001376	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11001389	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11001457	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11001460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1194518	0.86[EUR][1000 genomes]
rs12569472	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16928725	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928871	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793783	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3829169	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57197814	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57497780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58198087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085534	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086430	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7101052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72787323	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72787326	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72787330	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72787333	1.00[AMR][1000 genomes]
rs72787341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918883	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv550889	chr10:54016062-54044615	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 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	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54017400-54042600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:54017400-54049600	Weak transcription	Left Ventricle	heart
4	chr10:54023600-54042000	Weak transcription	Psoas Muscle	Psoas
5	chr10:54028000-54045600	Weak transcription	NHDF-Ad	bronchial
6	chr10:54029600-54040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:54029800-54055400	Weak transcription	Fetal Lung	lung
8	chr10:54031400-54042200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:54032200-54044200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:54036000-54050400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:54036800-54047400	Weak transcription	Fetal Intestine Large	intestine
12	chr10:54037200-54040600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:54037800-54056000	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:54038800-54041000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:54039000-54041000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:54039400-54040400	Enhancers	HUVEC	blood vessel
17	chr10:54039400-54041000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:54039400-54042400	Weak transcription	HSMMtube	muscle
19	chr10:54039400-54042800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:54039800-54041400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:54040000-54040400	Enhancers	Colon Smooth Muscle	Colon

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