Variant report

Variant	rs4926513
Chromosome Location	chr1:47662427-47662428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2070929	0.82[JPT][hapmap]
rs2248907	0.93[TSI][hapmap]
rs2251786	0.94[ASN][1000 genomes]
rs4926718	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588655	0.81[CHB][hapmap]
rs941412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4926513	RP1-18D14.7	cis	Whole Blood	GTEx
rs4926513	MPL	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47659000-47675800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:47660000-47666600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:47661200-47664200	Weak transcription	K562	blood
4	chr1:47662200-47662600	Enhancers	HepG2	liver
5	chr1:47662400-47662600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:47662400-47662600	Enhancers	Left Ventricle	heart
7	chr1:47662400-47662600	Enhancers	Pancreas	Pancrea

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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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