Variant report

Variant	rs7718530
Chromosome Location	chr5:92485295-92485296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12513458	0.97[ASN][1000 genomes]
rs12522681	0.97[ASN][1000 genomes]
rs12522702	0.97[ASN][1000 genomes]
rs17082917	0.91[ASN][1000 genomes]
rs17360518	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17360811	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4308464	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4312865	0.97[ASN][1000 genomes]
rs4342312	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493655	0.96[ASN][1000 genomes]
rs4599520	0.97[ASN][1000 genomes]
rs4613686	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55971857	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56854549	0.96[ASN][1000 genomes]
rs57921649	0.96[ASN][1000 genomes]
rs59273613	0.94[ASN][1000 genomes]
rs67832642	0.97[ASN][1000 genomes]
rs67895058	0.96[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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	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	chr5:92478200-92486200	Weak transcription	NHLF	lung
2	chr5:92481000-92486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:92481000-92486400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:92481200-92489200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:92481800-92486000	Weak transcription	NHDF-Ad	bronchial
6	chr5:92481800-92486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:92481800-92486200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:92481800-92486200	Weak transcription	NH-A	brain
9	chr5:92482200-92485800	Weak transcription	HSMMtube	muscle
10	chr5:92482200-92486000	Weak transcription	HSMM	muscle
11	chr5:92482200-92486200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:92482200-92486200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:92482400-92486000	Weak transcription	Osteobl	bone
14	chr5:92482400-92486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:92483400-92485400	Weak transcription	Muscle Satellite Cultured Cells	--

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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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