Variant report

Variant	rs73180686
Chromosome Location	chr13:38069291-38069292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73176517	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73180684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180688	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9594201	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9594218	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9603190	0.85[EUR][1000 genomes]
rs9603193	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9603212	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1053772	chr13:38065117-38084745	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
9	nsv561494	chr13:38065446-38118531	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv517476	chr13:38065446-38121560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1053615	chr13:38065990-38084745	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
12	nsv1054580	chr13:38066478-38084745	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
13	nsv1044707	chr13:38066478-38115110	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1045316	chr13:38067143-38084745	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38061400-38070000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:38065800-38069800	Enhancers	Osteobl	bone
3	chr13:38066200-38070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:38067200-38069400	Weak transcription	Left Ventricle	heart
5	chr13:38067200-38070000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:38067600-38069400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:38067600-38069400	Weak transcription	NHEK	skin
8	chr13:38067600-38069400	Weak transcription	NHLF	lung
9	chr13:38068400-38069600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:38068400-38069800	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:38069000-38070000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:38069000-38070000	Enhancers	HSMMtube	muscle
13	chr13:38069000-38070800	Enhancers	Hela-S3	cervix
14	chr13:38069200-38069600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:38069200-38069600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:38069200-38069600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:38069200-38069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:38069200-38069800	Enhancers	HSMM	muscle
19	chr13:38069200-38070000	Enhancers	HMEC	breast
20	chr13:38069200-38070000	Enhancers	NHDF-Ad	bronchial

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