Variant report

Variant	rs250750
Chromosome Location	chr5:76039941-76039942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76038198..76039976-chr5:76043703..76045961,3	K562	blood:
2	chr5:76039605..76041690-chr5:76046432..76048582,2	K562	blood:
3	chr5:76034540..76037024-chr5:76038792..76041708,3	K562	blood:
4	chr5:76015491..76019327-chr5:76037164..76040900,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs152778	0.93[ASN][1000 genomes]
rs153306	0.87[ASN][1000 genomes]
rs153310	0.90[ASN][1000 genomes]
rs193943	0.94[ASN][1000 genomes]
rs250716	0.94[ASN][1000 genomes]
rs250717	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs250719	0.96[ASN][1000 genomes]
rs250720	0.88[ASN][1000 genomes]
rs250723	0.85[ASN][1000 genomes]
rs250730	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250731	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs250739	0.98[ASN][1000 genomes]
rs250741	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs250742	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250743	0.87[ASN][1000 genomes]
rs250744	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250747	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs250748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250749	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs250751	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250752	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs253072	0.88[ASN][1000 genomes]
rs253073	0.88[ASN][1000 genomes]
rs37250	0.85[ASN][1000 genomes]
rs457606	0.91[ASN][1000 genomes]
rs705402	0.98[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs250750	F2R	cis	Muscle Skeletal	GTEx
rs250750	F2R	cis	lung	GTEx
rs250750	F2R	cis	Esophagus Muscularis	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
2	chr5:76030000-76040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:76030400-76040200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:76030600-76040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:76030600-76040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:76030800-76040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:76034600-76040400	Weak transcription	Small Intestine	intestine
9	chr5:76035600-76043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:76035800-76046400	Weak transcription	HepG2	liver
11	chr5:76038200-76040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:76038800-76041400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:76039000-76040000	Weak transcription	Fetal Lung	lung

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