Variant report

Variant	rs4530695
Chromosome Location	chr4:54629640-54629641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10022751	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083453	0.95[ASN][1000 genomes]
rs17083478	0.90[ASN][1000 genomes]
rs28538396	0.92[ASN][1000 genomes]
rs28671441	0.95[ASN][1000 genomes]
rs28678269	0.95[ASN][1000 genomes]
rs28722947	0.92[ASN][1000 genomes]
rs62297702	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62297704	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62297725	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324661	0.88[EUR][1000 genomes]
rs6854877	0.88[EUR][1000 genomes]
rs73159227	0.92[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	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4530695	IGFBP7	cis	cerebellum	SCAN
rs4530695	PDGFRA	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54629000-54630400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:54629200-54630400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:54629200-54630400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:54629200-54631200	Enhancers	NHDF-Ad	bronchial
5	chr4:54629200-54631800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:54629400-54629800	Enhancers	Fetal Kidney	kidney
8	chr4:54629400-54630400	Enhancers	NHLF	lung
9	chr4:54629400-54630400	Enhancers	Osteobl	bone
10	chr4:54629400-54631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54629400-54631800	Enhancers	Ovary	ovary
12	chr4:54629400-54633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:54629600-54630800	Enhancers	Aorta	Aorta
14	chr4:54629600-54631000	Enhancers	Placenta	Placenta
15	chr4:54629600-54631600	Enhancers	HSMMtube	muscle
16	chr4:54629600-54631800	Enhancers	HSMM	muscle
17	chr4:54629600-54631800	Enhancers	NH-A	brain
18	chr4:54629600-54632000	Enhancers	Fetal Stomach	stomach

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Input of quick search could be:

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

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