Variant report

Variant	rs72787451
Chromosome Location	chr5:124419591-124419592
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11241784	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11241785	0.89[ASN][1000 genomes]
rs11950458	0.95[ASN][1000 genomes]
rs11953289	0.85[ASN][1000 genomes]
rs11956003	0.87[ASN][1000 genomes]
rs11956633	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12520910	0.91[ASN][1000 genomes]
rs12655216	0.81[ASN][1000 genomes]
rs13157128	0.85[ASN][1000 genomes]
rs4076183	0.85[ASN][1000 genomes]
rs4076184	0.85[ASN][1000 genomes]
rs4076185	0.87[ASN][1000 genomes]
rs4131047	0.93[ASN][1000 genomes]
rs4293913	0.82[ASN][1000 genomes]
rs4415071	0.93[ASN][1000 genomes]
rs4451044	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4452554	0.85[ASN][1000 genomes]
rs4510579	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4554218	0.85[ASN][1000 genomes]
rs4643951	0.91[ASN][1000 genomes]
rs4835863	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55888913	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55919034	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59246326	0.93[ASN][1000 genomes]
rs6595573	0.82[ASN][1000 genomes]
rs6595575	0.95[ASN][1000 genomes]
rs6870629	0.87[ASN][1000 genomes]
rs6872841	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72787446	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7445665	0.89[ASN][1000 genomes]
rs7709124	0.91[ASN][1000 genomes]
rs7724511	0.91[ASN][1000 genomes]
rs875330	0.87[ASN][1000 genomes]
rs875331	0.85[ASN][1000 genomes]
rs875332	0.85[ASN][1000 genomes]
rs968327	0.85[ASN][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1019740	chr5:124394818-124431220	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124401000-124424200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:124418000-124420600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:124418400-124420800	Enhancers	NHDF-Ad	bronchial
4	chr5:124418600-124419800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:124418600-124421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:124419000-124419600	Enhancers	Fetal Lung	lung
7	chr5:124419000-124420200	Enhancers	NHLF	lung
8	chr5:124419000-124420400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:124419200-124419600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:124419200-124419800	Enhancers	NH-A	brain
11	chr5:124419200-124419800	Enhancers	Osteobl	bone
12	chr5:124419200-124420000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:124419200-124420000	Enhancers	HMEC	breast
14	chr5:124419200-124420000	Enhancers	HSMM	muscle
15	chr5:124419200-124420200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:124419200-124420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:124419200-124420400	Enhancers	NHEK	skin
18	chr5:124419200-124420800	Enhancers	Fetal Stomach	stomach
19	chr5:124419400-124420000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:124419400-124420200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:124419400-124420200	Enhancers	Colon Smooth Muscle	Colon
22	chr5:124419400-124420400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:124419400-124420400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:124419400-124421800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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