Variant report

Variant	rs1194516
Chromosome Location	chr10:54031443-54031444
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:35)

rs_ID	r²[population]
rs10128309	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508962	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508963	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508965	1.00[ASN][1000 genomes]
rs11001195	1.00[ASN][1000 genomes]
rs11001263	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001298	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001416	0.85[EUR][1000 genomes]
rs11001445	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001452	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001453	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598203	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194500	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194502	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194515	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201585	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243664	0.85[EUR][1000 genomes]
rs12244698	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269357	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269427	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406473	0.89[EUR][1000 genomes]
rs1528880	0.85[EUR][1000 genomes]
rs16928983	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910542	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281544	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070276	1.00[ASN][1000 genomes]
rs7075923	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091481	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346996	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348710	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348739	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907343	1.00[ASN][1000 genomes]
rs7909343	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912782	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv2621844	chr10:53982660-54033949	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv5974	chr10:53984049-54034016	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3377297	chr10:53984068-54034061	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3359737	chr10:53984078-54034047	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3361575	chr10:53984134-54034048	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3494769	chr10:53984145-54034011	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3494770	chr10:53984145-54034011	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3378490	chr10:53984169-54034027	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3376659	chr10:53984202-54033986	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3072	chr10:53984224-54034020	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3371586	chr10:53984271-54033985	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	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:14 , 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	chr10:54019400-54031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:54019600-54038800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:54023600-54042000	Weak transcription	Psoas Muscle	Psoas
7	chr10:54028000-54045600	Weak transcription	NHDF-Ad	bronchial
8	chr10:54028400-54039000	Weak transcription	HSMMtube	muscle
9	chr10:54029600-54040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:54029800-54055400	Weak transcription	Fetal Lung	lung
11	chr10:54031000-54032200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr10:54031000-54032200	Strong transcription	Fetal Muscle Leg	muscle
13	chr10:54031200-54032000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:54031400-54042200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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