Variant report

Variant	rs6861601
Chromosome Location	chr5:74249663-74249664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56155006	1.00[EUR][1000 genomes]
rs61474708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6869175	1.00[EUR][1000 genomes]
rs6886786	1.00[EUR][1000 genomes]
rs73765618	0.86[EUR][1000 genomes]
rs73765619	0.86[EUR][1000 genomes]
rs73765621	0.86[EUR][1000 genomes]
rs7703444	0.86[EUR][1000 genomes]
rs7729911	1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74244200-74253400	Weak transcription	Aorta	Aorta
2	chr5:74244400-74249800	Weak transcription	Ovary	ovary
3	chr5:74244400-74249800	Weak transcription	HSMM	muscle
4	chr5:74244600-74249800	Weak transcription	Gastric	stomach
5	chr5:74244600-74249800	Weak transcription	Spleen	Spleen
6	chr5:74244600-74250000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:74244600-74251600	Enhancers	NHLF	lung
8	chr5:74245400-74256000	Enhancers	Fetal Intestine Large	intestine
9	chr5:74245800-74255800	Enhancers	Stomach Mucosa	stomach
10	chr5:74246000-74249800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:74246200-74249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:74246200-74251600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:74246200-74259200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:74246400-74249800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:74246400-74252000	Enhancers	NHDF-Ad	bronchial
16	chr5:74246600-74255000	Enhancers	HepG2	liver
17	chr5:74246600-74256600	Enhancers	Fetal Intestine Small	intestine
18	chr5:74247000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:74247600-74250800	Enhancers	Fetal Kidney	kidney
20	chr5:74247800-74250800	Enhancers	Pancreas	Pancrea
21	chr5:74247800-74253400	Enhancers	NHEK	skin
22	chr5:74248000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:74248400-74253600	Enhancers	Placenta	Placenta
24	chr5:74249200-74253400	Enhancers	HMEC	breast
25	chr5:74249400-74250800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:74249400-74250800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:74249400-74250800	Enhancers	Fetal Lung	lung
28	chr5:74249400-74251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:74249400-74251800	Enhancers	NH-A	brain
30	chr5:74249400-74252400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:74249400-74253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:74249600-74249800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:74249600-74250000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:74249600-74250000	Enhancers	Small Intestine	intestine
35	chr5:74249600-74250200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr5:74249600-74250800	Enhancers	Liver	Liver
37	chr5:74249600-74251400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:74249600-74251400	Enhancers	Hela-S3	cervix
39	chr5:74249600-74251400	Enhancers	Osteobl	bone
40	chr5:74249600-74254400	Enhancers	Duodenum Mucosa	Duodenum

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