Variant report

Variant	rs72624852
Chromosome Location	chr3:54076860-54076861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17053673	0.88[EUR][1000 genomes]
rs45442298	1.00[AFR][1000 genomes]
rs60651798	0.83[EUR][1000 genomes]
rs72624848	0.84[EUR][1000 genomes]
rs72624849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72624850	0.90[EUR][1000 genomes]
rs72624851	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:54059600-54078000	Weak transcription	Right Atrium	heart
2	chr3:54069800-54078000	Weak transcription	Esophagus	oesophagus
3	chr3:54075800-54078200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:54076000-54077000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:54076000-54077000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:54076000-54077200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:54076000-54077400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:54076000-54077400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:54076000-54077400	Enhancers	HMEC	breast
10	chr3:54076000-54077400	Enhancers	NHEK	skin
11	chr3:54076000-54077600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:54076000-54077800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:54076200-54077000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:54076200-54077000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:54076200-54077200	Enhancers	Hela-S3	cervix
16	chr3:54076400-54077000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:54076400-54077200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:54076400-54077200	Enhancers	Placenta	Placenta
19	chr3:54076400-54078400	Weak transcription	Fetal Stomach	stomach
20	chr3:54076600-54079800	Weak transcription	Left Ventricle	heart
21	chr3:54076800-54078200	Weak transcription	Fetal Lung	lung
22	chr3:54076800-54081000	Weak transcription	Gastric	stomach
23	chr3:54076800-54088400	Weak transcription	Lung	lung

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