Variant report

Variant	rs2227744
Chromosome Location	chr5:76010349-76010350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:76010271-76012979	SK-N-MC	brain:	n/a	n/a
2	ZNF143	chr5:76010317-76010505	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76008537..76011393-chr5:76015076..76017245,2	K562	blood:
2	chr5:76003087..76005831-chr5:76008202..76010428,3	K562	blood:

Variant related genes	Relation type
F2R	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10036196	0.83[ASN][1000 genomes]
rs10036832	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10053089	0.83[ASN][1000 genomes]
rs10056368	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10056941	0.84[ASN][1000 genomes]
rs10058007	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062454	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10063755	0.82[ASN][1000 genomes]
rs10063832	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs10213750	0.84[ASN][1000 genomes]
rs10213957	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10214128	0.89[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10214133	0.84[ASN][1000 genomes]
rs10214134	0.84[ASN][1000 genomes]
rs10474484	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942789	0.89[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10942790	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11950408	0.84[ASN][1000 genomes]
rs11951708	0.82[ASN][1000 genomes]
rs11951902	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11952627	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11953613	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11956898	0.84[ASN][1000 genomes]
rs12054930	0.85[ASN][1000 genomes]
rs12054935	0.89[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12517193	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12697858	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs13154881	0.82[ASN][1000 genomes]
rs13154915	0.82[ASN][1000 genomes]
rs13168057	0.84[ASN][1000 genomes]
rs13175585	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs13181615	0.84[ASN][1000 genomes]
rs13188539	0.82[ASN][1000 genomes]
rs13188565	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs13188750	0.83[ASN][1000 genomes]
rs2307122	0.84[ASN][1000 genomes]
rs2307123	0.83[ASN][1000 genomes]
rs2307124	0.84[ASN][1000 genomes]
rs27134	0.88[AFR][1000 genomes]
rs27135	0.81[ASW][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs28609562	0.84[ASN][1000 genomes]
rs34921325	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37243	0.88[AFR][1000 genomes]
rs37249	0.89[LWK][hapmap];0.85[MKK][hapmap]
rs3797451	0.83[ASN][1000 genomes]
rs3797452	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3816909	0.84[ASN][1000 genomes]
rs3822547	0.84[ASN][1000 genomes]
rs3822548	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4703715	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4703716	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704354	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4704355	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4704356	0.86[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4704357	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs71630933	0.84[ASN][1000 genomes]
rs7712485	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7731047	0.83[ASN][1000 genomes]
rs9293695	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2227744	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75988800-76011000	Weak transcription	Lung	lung
2	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:75997200-76010400	Weak transcription	HepG2	liver
5	chr5:75997800-76010800	Weak transcription	Gastric	stomach
6	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
7	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:76003000-76010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:76004600-76010400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:76004800-76010600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:76005000-76010400	Weak transcription	Placenta	Placenta
14	chr5:76005200-76010600	Weak transcription	Liver	Liver
15	chr5:76006200-76010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:76007400-76010400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:76007600-76010400	Weak transcription	Fetal Stomach	stomach
18	chr5:76007600-76010400	Weak transcription	NH-A	brain
19	chr5:76007600-76011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:76007600-76011000	Weak transcription	NHLF	lung
21	chr5:76008200-76010800	Weak transcription	HMEC	breast
22	chr5:76009600-76010400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr5:76010000-76010400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr5:76010000-76010400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
25	chr5:76010000-76010400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:76010000-76010400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:76010000-76010800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:76010000-76010800	Enhancers	NHDF-Ad	bronchial
29	chr5:76010000-76011600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:76010000-76011800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr5:76010200-76010400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:76010200-76010400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr5:76010200-76010600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr5:76010200-76010600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr5:76010200-76010800	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr5:76010200-76011000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr5:76010200-76011200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:76010200-76011200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:76010200-76011600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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