Variant report

Variant	rs73239158
Chromosome Location	chr5:112491818-112491819
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10067575	1.00[AMR][1000 genomes]
rs1345079	1.00[AMR][1000 genomes]
rs1443688	1.00[AMR][1000 genomes]
rs1443697	1.00[AMR][1000 genomes]
rs1443698	1.00[AMR][1000 genomes]
rs1584057	1.00[AMR][1000 genomes]
rs1867326	1.00[AMR][1000 genomes]
rs1982287	1.00[AMR][1000 genomes]
rs2416308	1.00[AMR][1000 genomes]
rs2900068	1.00[AMR][1000 genomes]
rs2900069	1.00[AMR][1000 genomes]
rs4235795	1.00[AMR][1000 genomes]
rs55834943	1.00[AMR][1000 genomes]
rs56096608	1.00[AMR][1000 genomes]
rs57288647	1.00[AMR][1000 genomes]
rs60422435	1.00[AMR][1000 genomes]
rs6594694	1.00[AMR][1000 genomes]
rs6862997	1.00[AMR][1000 genomes]
rs6892018	1.00[AMR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	1.00[AMR][1000 genomes]
rs73239122	1.00[AMR][1000 genomes]
rs73239127	1.00[AMR][1000 genomes]
rs73244727	1.00[AMR][1000 genomes]
rs73244751	1.00[AMR][1000 genomes]
rs73778907	1.00[AMR][1000 genomes]
rs73778912	1.00[AMR][1000 genomes]
rs73778915	1.00[AMR][1000 genomes]
rs73778917	1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73781500	1.00[AMR][1000 genomes]
rs73783203	1.00[AMR][1000 genomes]
rs935164	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
3	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112483000-112496800	Weak transcription	HMEC	breast
6	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
8	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:112485800-112492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:112485800-112495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:112486800-112494600	Weak transcription	Lung	lung
12	chr5:112486800-112500400	Weak transcription	Gastric	stomach
13	chr5:112487200-112498200	Weak transcription	Esophagus	oesophagus
14	chr5:112488200-112492800	Weak transcription	Right Atrium	heart
15	chr5:112489000-112492200	Weak transcription	Fetal Heart	heart
16	chr5:112489200-112500000	Weak transcription	Liver	Liver
17	chr5:112490200-112498600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:112490400-112492000	Weak transcription	Left Ventricle	heart
19	chr5:112490400-112492200	Weak transcription	Ovary	ovary
20	chr5:112490400-112492600	Weak transcription	Right Ventricle	heart
21	chr5:112491000-112498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:112491200-112493200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:112491600-112492200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112491600-112493000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:112491600-112493800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:112491800-112492200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:112491800-112492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:112491800-112493600	Strong transcription	NHEK	skin

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