Variant report

Variant	rs1371376
Chromosome Location	chr5:124484863-124484864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10061454	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10071085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10076095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1030951	1.00[AMR][1000 genomes]
rs1030954	1.00[ASN][1000 genomes]
rs12188573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13167433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13182079	1.00[AMR][1000 genomes]
rs1371375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1371377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1439597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550355	1.00[AMR][1000 genomes]
rs1550366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1550367	1.00[AMR][1000 genomes]
rs17152319	1.00[ASN][1000 genomes]
rs17515224	1.00[ASN][1000 genomes]
rs4429850	1.00[AMR][1000 genomes]
rs4836148	1.00[ASN][1000 genomes]
rs4836150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4836152	1.00[AMR][1000 genomes]
rs4836154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4991346	0.84[AFR][1000 genomes]
rs6595579	1.00[AMR][1000 genomes]
rs6595580	1.00[ASN][1000 genomes]
rs6595581	1.00[ASN][1000 genomes]
rs6868056	1.00[ASN][1000 genomes]
rs6868078	1.00[ASN][1000 genomes]
rs6868875	1.00[ASN][1000 genomes]
rs6878640	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6889068	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73784301	1.00[ASN][1000 genomes]
rs73785604	1.00[ASN][1000 genomes]
rs7449435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7704599	1.00[ASN][1000 genomes]
rs7704604	1.00[ASN][1000 genomes]
rs7708261	1.00[ASN][1000 genomes]
rs7708846	1.00[ASN][1000 genomes]
rs7713953	1.00[ASN][1000 genomes]
rs7720265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9327352	1.00[AMR][1000 genomes];1.00[ASN][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	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
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124477200-124488200	Weak transcription	HUVEC	blood vessel
2	chr5:124484000-124490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:124484200-124485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:124484200-124485400	Enhancers	NHDF-Ad	bronchial
5	chr5:124484200-124486400	Enhancers	Fetal Stomach	stomach
6	chr5:124484400-124486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:124484600-124485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:124484600-124485200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:124484600-124485200	Enhancers	HSMM	muscle
10	chr5:124484800-124485200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:124484800-124485200	Flanking Active TSS	HSMMtube	muscle
12	chr5:124484800-124485400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:124484800-124485400	Enhancers	Brain Hippocampus Middle	brain
14	chr5:124484800-124485400	Enhancers	Small Intestine	intestine
15	chr5:124484800-124485600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:124484800-124485600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:124484800-124486000	Weak transcription	Adipose Nuclei	Adipose
18	chr5:124484800-124487200	Enhancers	HUES48 Cell Line	embryonic stem cell

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