Variant report

Variant	rs250731
Chromosome Location	chr5:76035679-76035680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76010538..76012430-chr5:76033988..76036360,2	K562	blood:
2	chr5:76011354..76013576-chr5:76033498..76036303,3	K562	blood:
3	chr5:76034540..76037024-chr5:76038792..76041708,3	K562	blood:

Variant related genes	Relation type
ENSG00000225407	Chromatin interaction
ENSG00000181104	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs152778	0.85[ASN][1000 genomes]
rs153306	0.81[ASN][1000 genomes]
rs153310	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193943	0.86[ASN][1000 genomes]
rs250716	0.86[ASN][1000 genomes]
rs250717	0.88[ASN][1000 genomes]
rs250719	0.88[ASN][1000 genomes]
rs250720	0.82[ASN][1000 genomes]
rs250730	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs250739	0.90[ASN][1000 genomes]
rs250741	0.90[ASN][1000 genomes]
rs250742	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250744	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250745	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250746	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250747	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs250748	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250749	0.86[EUR][1000 genomes]
rs250750	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs250751	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250752	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs253072	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253073	0.97[ASN][1000 genomes]
rs37250	0.91[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs457606	0.81[ASN][1000 genomes]
rs705402	0.90[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
rs250731	F2RL1	cis	parietal	SCAN
rs250731	F2RL1	cis	multi-tissue	Pritchard
rs250731	F2R	cis	Esophagus Muscularis	GTEx
rs250731	F2R	cis	Muscle Skeletal	GTEx
rs250731	F2R	cis	lung	GTEx

Chromatin state (count:35 , 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	chr5:76031600-76035800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:76031600-76035800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:76031800-76035800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:76034000-76035800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:76034600-76040400	Weak transcription	Small Intestine	intestine
15	chr5:76034800-76037800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:76035000-76035800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:76035000-76035800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:76035000-76037000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:76035000-76037600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:76035000-76038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:76035000-76038400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:76035200-76035800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:76035200-76035800	Enhancers	HepG2	liver
24	chr5:76035200-76038200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:76035200-76038600	Weak transcription	Fetal Lung	lung
26	chr5:76035400-76035800	Enhancers	K562	blood
27	chr5:76035600-76035800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:76035600-76035800	Enhancers	A549	lung
29	chr5:76035600-76036800	Enhancers	GM12878-XiMat	blood
30	chr5:76035600-76037800	Weak transcription	NHEK	skin
31	chr5:76035600-76038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:76035600-76038000	Weak transcription	NHDF-Ad	bronchial
33	chr5:76035600-76038000	Weak transcription	NHLF	lung
34	chr5:76035600-76038000	Weak transcription	Osteobl	bone
35	chr5:76035600-76043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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