Variant report

Variant	rs11740654
Chromosome Location	chr5:124889258-124889259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11739074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11742247	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11743756	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11745466	1.00[EUR][1000 genomes]
rs11748245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11748322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11748806	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12187818	0.86[ASN][1000 genomes]
rs73784744	0.82[EUR][1000 genomes]
rs73784748	0.82[EUR][1000 genomes]
rs73784787	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124884200-124895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:124887400-124893800	Weak transcription	NH-A	brain
3	chr5:124887400-124894400	Weak transcription	Fetal Lung	lung
4	chr5:124887400-124894800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:124887800-124894200	Weak transcription	NHDF-Ad	bronchial
6	chr5:124888000-124890000	Weak transcription	Fetal Kidney	kidney
7	chr5:124888200-124892400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:124888800-124894200	Weak transcription	Osteobl	bone
9	chr5:124888800-124894800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:124889000-124889400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:124889000-124893800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:124889000-124893800	Weak transcription	HUVEC	blood vessel
13	chr5:124889200-124889400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:124889200-124890400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124889200-124890400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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