Variant report

Variant	rs250751
Chromosome Location	chr5:76038885-76038886
allele	A/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	chr5:76034540..76037024-chr5:76038792..76041708,3	K562	blood:
3	chr5:76015491..76019327-chr5:76037164..76040900,3	K562	blood:
4	chr5:76038198..76039709-chr5:76043703..76045961,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs152778	0.92[ASN][1000 genomes]
rs153306	0.87[ASN][1000 genomes]
rs153310	0.83[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs193943	0.94[ASN][1000 genomes]
rs250716	0.94[ASN][1000 genomes]
rs250717	0.95[ASN][1000 genomes]
rs250719	0.95[ASN][1000 genomes]
rs250720	0.87[ASN][1000 genomes]
rs250723	0.85[ASN][1000 genomes]
rs250730	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250731	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250739	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs250741	0.98[ASN][1000 genomes]
rs250742	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250743	0.87[ASN][1000 genomes]
rs250744	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250745	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250746	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250747	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs250748	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250749	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs250750	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253072	0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs253073	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs37250	0.90[ASW][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.87[MKK][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs457606	0.90[ASN][1000 genomes]
rs705402	0.82[AFR][1000 genomes];0.97[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs250751	F2R	cis	lung	GTEx
rs250751	F2RL1	cis	multi-tissue	Pritchard
rs250751	F2RL1	cis	parietal	SCAN
rs250751	F2R	cis	Muscle Skeletal	GTEx
rs250751	F2R	cis	Esophagus Muscularis	GTEx

Chromatin state (count:20 , 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	chr5:76030600-76039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:76030600-76040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:76030600-76040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:76030800-76040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:76034600-76040400	Weak transcription	Small Intestine	intestine
10	chr5:76035600-76043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:76035800-76046400	Weak transcription	HepG2	liver
12	chr5:76037800-76039600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:76038000-76039000	Enhancers	NHLF	lung
14	chr5:76038000-76039000	Enhancers	Osteobl	bone
15	chr5:76038000-76039200	Enhancers	NHDF-Ad	bronchial
16	chr5:76038200-76039000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:76038200-76039000	Enhancers	A549	lung
18	chr5:76038200-76040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:76038600-76039000	Enhancers	Fetal Lung	lung
20	chr5:76038800-76041400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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