Variant report

Variant	rs250743
Chromosome Location	chr5:76042243-76042244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs152778	0.85[ASN][1000 genomes]
rs193943	0.86[ASN][1000 genomes]
rs250716	0.86[ASN][1000 genomes]
rs250717	0.87[ASN][1000 genomes]
rs250719	0.87[ASN][1000 genomes]
rs250720	0.80[ASN][1000 genomes]
rs250730	0.80[ASN][1000 genomes]
rs250739	0.89[ASN][1000 genomes]
rs250741	0.89[ASN][1000 genomes]
rs250742	0.88[ASN][1000 genomes]
rs250744	0.88[ASN][1000 genomes]
rs250745	0.88[ASN][1000 genomes]
rs250746	0.88[ASN][1000 genomes]
rs250747	0.87[ASN][1000 genomes]
rs250748	0.88[ASN][1000 genomes]
rs250750	0.87[ASN][1000 genomes]
rs250751	0.87[ASN][1000 genomes]
rs250752	0.87[ASN][1000 genomes]
rs457606	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs705402	0.89[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs250743	F2R	cis	lung	GTEx
rs250743	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
2	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:76035600-76043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:76035800-76046400	Weak transcription	HepG2	liver

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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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