Variant report

Variant	rs4380607
Chromosome Location	chr5:57129112-57129113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10072292	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1821210	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2408854	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4235475	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4235476	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4285175	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4317282	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4403130	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4421067	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4458541	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4513644	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4699913	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4700231	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4700233	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6450442	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450444	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6896848	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs702699	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs702701	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7701200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs854035	0.87[AMR][1000 genomes]
rs854036	0.87[AMR][1000 genomes]
rs854038	0.82[AMR][1000 genomes]
rs854039	0.81[AMR][1000 genomes]
rs854042	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854045	0.81[AMR][1000 genomes]
rs854046	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854048	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854049	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854050	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs854052	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs854053	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs868049	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs897264	0.97[AMR][1000 genomes];0.93[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57121400-57132800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:57127200-57129600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:57127400-57129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:57127400-57129800	Enhancers	HMEC	breast
5	chr5:57127400-57137400	Enhancers	NHEK	skin
6	chr5:57128000-57129200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:57128000-57129800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:57128400-57130000	Enhancers	Hela-S3	cervix
9	chr5:57128400-57132200	Enhancers	HUVEC	blood vessel
10	chr5:57128600-57129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:57128600-57129200	Enhancers	Placenta	Placenta
12	chr5:57128600-57129200	Enhancers	Pancreas	Pancrea
13	chr5:57128600-57129200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:57128600-57129600	Enhancers	Osteobl	bone
15	chr5:57128800-57129200	Enhancers	Lung	lung
16	chr5:57128800-57129600	Enhancers	Right Ventricle	heart
17	chr5:57129000-57129200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:57129000-57129200	Enhancers	NH-A	brain
19	chr5:57129000-57129600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:57129000-57129600	Enhancers	HSMM	muscle
21	chr5:57129000-57130600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:57129000-57131000	Weak transcription	NHLF	lung

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