Variant report

Variant	rs1371371
Chromosome Location	chr5:124617232-124617233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1347923	0.81[AMR][1000 genomes]
rs1347925	0.83[AMR][1000 genomes]
rs1348584	0.85[AMR][1000 genomes]
rs1439582	0.80[AMR][1000 genomes]
rs1439583	0.80[AMR][1000 genomes]
rs1439586	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1439611	0.83[AMR][1000 genomes]
rs1444659	0.85[AMR][1000 genomes]
rs2118999	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4351146	0.83[AMR][1000 genomes]
rs5011755	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6595604	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6595606	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs713163	0.83[AMR][1000 genomes]
rs7737255	0.83[AMR][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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124614400-124631400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124616800-124617600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:124617000-124617600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:124617200-124617600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:124617200-124617600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:124617200-124617600	Enhancers	Colon Smooth Muscle	Colon
7	chr5:124617200-124617600	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:124617200-124617800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr5:124617200-124617800	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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