Variant report

Variant	rs250752
Chromosome Location	chr5:76037626-76037627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76010778..76012385-chr5:76036533..76038568,2	K562	blood:
2	chr5:76015491..76019327-chr5:76037164..76040900,3	K562	blood:

Variant related genes	Relation type
ENSG00000181104	Chromatin interaction
ENSG00000225407	Chromatin interaction

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

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	0.91[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	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250731	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];0.95[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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250746	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250747	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs250748	0.97[AMR][1000 genomes];0.98[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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253072	0.88[ASN][1000 genomes]
rs253073	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs37250	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs250752	F2R	cis	Esophagus Muscularis	GTEx
rs250752	F2R	cis	lung	GTEx
rs250752	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:27 , 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	chr5:76030400-76038600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:76030400-76040200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:76030600-76039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:76030600-76040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:76030600-76040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:76030800-76040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:76034600-76040400	Weak transcription	Small Intestine	intestine
11	chr5:76034800-76037800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:76035000-76038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:76035000-76038400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:76035200-76038200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:76035200-76038600	Weak transcription	Fetal Lung	lung
16	chr5:76035600-76037800	Weak transcription	NHEK	skin
17	chr5:76035600-76038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:76035600-76038000	Weak transcription	NHDF-Ad	bronchial
19	chr5:76035600-76038000	Weak transcription	NHLF	lung
20	chr5:76035600-76038000	Weak transcription	Osteobl	bone
21	chr5:76035600-76043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:76035800-76037800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:76035800-76037800	Weak transcription	K562	blood
24	chr5:76035800-76038200	Weak transcription	A549	lung
25	chr5:76035800-76046400	Weak transcription	HepG2	liver
26	chr5:76036800-76038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:76037400-76038200	Enhancers	Primary T cells fromperipheralblood	blood

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