Variant report

Variant	rs72938569
Chromosome Location	chr3:98679838-98679839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2449044	1.00[AMR][1000 genomes]
rs2929492	1.00[AMR][1000 genomes]
rs56694316	1.00[AMR][1000 genomes]
rs56857413	1.00[AMR][1000 genomes]
rs56914517	1.00[AMR][1000 genomes]
rs57266345	0.91[AFR][1000 genomes]
rs59684850	0.86[AFR][1000 genomes]
rs60878971	1.00[AMR][1000 genomes]
rs61228839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923090	1.00[AMR][1000 genomes]
rs72934618	0.91[AFR][1000 genomes]
rs72934634	0.87[AFR][1000 genomes]
rs72936606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936636	1.00[AFR][1000 genomes]
rs72936671	0.95[AFR][1000 genomes]
rs72936680	0.95[AFR][1000 genomes]
rs72938508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938577	1.00[AMR][1000 genomes]
rs72940503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3440755	chr3:98666311-98680865	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98674400-98681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:98675200-98680800	Weak transcription	Fetal Lung	lung
3	chr3:98677200-98680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:98677200-98681200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:98677600-98680400	Enhancers	HMEC	breast
6	chr3:98678800-98680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:98678800-98680800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:98678800-98680800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:98678800-98680800	Enhancers	NH-A	brain
10	chr3:98679200-98680800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:98679400-98681000	Enhancers	NHDF-Ad	bronchial
12	chr3:98679400-98681000	Enhancers	NHLF	lung
13	chr3:98679600-98680200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:98679600-98680800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:98679600-98680800	Enhancers	Osteobl	bone
16	chr3:98679800-98681000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:98679800-98681400	Flanking Active TSS	A549	lung
18	chr3:98679800-98682400	Flanking Active TSS	NHEK	skin

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