Variant report

Variant	rs1375512
Chromosome Location	chr3:100735986-100735987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13085823	1.00[ASN][1000 genomes]
rs1449299	0.90[ASN][1000 genomes]
rs1530731	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1579969	1.00[ASN][1000 genomes]
rs16843153	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17339226	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17340282	0.89[ASN][1000 genomes]
rs2595907	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2713749	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2713758	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2713798	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs55687619	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55936420	0.84[EUR][1000 genomes]
rs56077494	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56237429	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59476872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774218	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6787197	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787878	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73141447	0.89[ASN][1000 genomes]
rs73143044	0.84[EUR][1000 genomes]
rs73143061	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73143062	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73143064	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73143072	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73144908	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73144910	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73144915	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73144970	1.00[ASN][1000 genomes]
rs73149160	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73149173	0.85[ASN][1000 genomes]
rs7621518	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623956	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7625454	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7637274	0.84[EUR][1000 genomes]
rs7641631	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7643050	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs959713	0.92[AMR][1000 genomes];0.96[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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100730000-100745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100735400-100736000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:100735400-100736000	Enhancers	Fetal Stomach	stomach
4	chr3:100735400-100736000	Enhancers	HMEC	breast
5	chr3:100735400-100736400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:100735400-100736400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:100735400-100736400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:100735400-100736600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:100735600-100736000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:100735600-100736200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:100735600-100736400	Enhancers	NHDF-Ad	bronchial
12	chr3:100735600-100736400	Enhancers	NHEK	skin
13	chr3:100735800-100736000	Flanking Active TSS	HUVEC	blood vessel
14	chr3:100735800-100736200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:100735800-100736200	Active TSS	Ovary	ovary
16	chr3:100735800-100736200	Flanking Active TSS	Osteobl	bone
17	chr3:100735800-100736400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:100735800-100736600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:100735800-100736600	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:100735800-100736600	Enhancers	HSMMtube	muscle

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