Variant report

Variant	rs4565192
Chromosome Location	chr5:74250573-74250574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59473915	0.93[EUR][1000 genomes]
rs6880176	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6895289	0.86[EUR][1000 genomes]
rs72766559	0.93[EUR][1000 genomes]
rs72766577	0.92[EUR][1000 genomes]
rs72766579	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74244200-74253400	Weak transcription	Aorta	Aorta
2	chr5:74244600-74251600	Enhancers	NHLF	lung
3	chr5:74245400-74256000	Enhancers	Fetal Intestine Large	intestine
4	chr5:74245800-74255800	Enhancers	Stomach Mucosa	stomach
5	chr5:74246200-74251600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:74246200-74259200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:74246400-74252000	Enhancers	NHDF-Ad	bronchial
8	chr5:74246600-74255000	Enhancers	HepG2	liver
9	chr5:74246600-74256600	Enhancers	Fetal Intestine Small	intestine
10	chr5:74247000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:74247600-74250800	Enhancers	Fetal Kidney	kidney
12	chr5:74247800-74250800	Enhancers	Pancreas	Pancrea
13	chr5:74247800-74253400	Enhancers	NHEK	skin
14	chr5:74248000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:74248400-74253600	Enhancers	Placenta	Placenta
16	chr5:74249200-74253400	Enhancers	HMEC	breast
17	chr5:74249400-74250800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:74249400-74250800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:74249400-74250800	Enhancers	Fetal Lung	lung
20	chr5:74249400-74251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:74249400-74251800	Enhancers	NH-A	brain
22	chr5:74249400-74252400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:74249400-74253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:74249600-74250800	Enhancers	Liver	Liver
25	chr5:74249600-74251400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:74249600-74251400	Enhancers	Hela-S3	cervix
27	chr5:74249600-74251400	Enhancers	Osteobl	bone
28	chr5:74249600-74254400	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:74249800-74250800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:74249800-74250800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:74249800-74250800	Enhancers	Ovary	ovary
32	chr5:74249800-74251200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:74249800-74251200	Enhancers	HUVEC	blood vessel
34	chr5:74250000-74250800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:74250000-74254000	Weak transcription	Small Intestine	intestine
36	chr5:74250200-74250800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:74250200-74250800	Enhancers	Esophagus	oesophagus
38	chr5:74250200-74252000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:74250400-74250800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:74250400-74252000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:74250400-74252000	Weak transcription	Gastric	stomach

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