Variant report

Variant	rs2227750
Chromosome Location	chr5:76013464-76013465
allele	C/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	chr5:76011041-76015191	HUVEC	blood vessel:	n/a	n/a
2	SIN3AK20	chr5:76013203-76013757	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:76013221-76014457	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr5:76010938-76016234	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:76011173-76015204	SK-N-SH	brain:	n/a	n/a
6	ZNF384	chr5:76012647-76013491	K562	blood:	n/a	n/a
7	RCOR1	chr5:76011668-76013488	K562	blood:	n/a	n/a
8	POLR2A	chr5:76011096-76014987	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr5:76011442-76014817	IMR90	lung:	n/a	n/a
10	POLR2A	chr5:76010859-76015123	HUVEC	blood vessel:	n/a	n/a
11	TBL1XR1	chr5:76012688-76013469	K562	blood:	n/a	n/a
12	POLR2A	chr5:76010957-76015172	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75997956..76000044-chr5:76012205..76013755,2	K562	blood:

Variant related genes	Relation type
ENSG00000225407	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10514070	0.89[CEU][hapmap]
rs10514071	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12735	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs62363009	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62363038	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884442	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6887764	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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
rs2227750	F2RL1	cis	multi-tissue	Pritchard

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76010400-76015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:76010600-76014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:76010800-76013600	Active TSS	NHDF-Ad	bronchial
4	chr5:76011000-76013600	Active TSS	NHLF	lung
5	chr5:76011200-76013600	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr5:76011200-76014400	Active TSS	Fetal Kidney	kidney
7	chr5:76011400-76013600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:76011600-76013600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:76011600-76013600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:76011600-76013800	Active TSS	HSMMtube	muscle
11	chr5:76011600-76014200	Active TSS	Fetal Brain Female	brain
12	chr5:76011800-76014200	Active TSS	Fetal Intestine Large	intestine
13	chr5:76012200-76013600	Active TSS	Fetal Brain Male	brain
14	chr5:76012200-76013800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr5:76012200-76013800	Flanking Active TSS	HMEC	breast
16	chr5:76012200-76014000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr5:76012400-76013600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:76012400-76014800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:76012600-76013600	Active TSS	Right Atrium	heart
20	chr5:76012600-76013800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr5:76012600-76013800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
22	chr5:76012600-76013800	Flanking Active TSS	NHEK	skin
23	chr5:76012800-76013600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr5:76012800-76013600	Active TSS	Colonic Mucosa	Colon
25	chr5:76012800-76013600	Active TSS	Left Ventricle	heart
26	chr5:76012800-76013800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:76012800-76013800	Active TSS	Liver	Liver
28	chr5:76012800-76013800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr5:76012800-76013800	Active TSS	Right Ventricle	heart
30	chr5:76012800-76014000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:76012800-76014400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:76012800-76014400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr5:76012800-76014800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:76012800-76018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:76013000-76013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:76013000-76013600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:76013000-76013600	Active TSS	Fetal Muscle Leg	muscle
38	chr5:76013000-76013600	Weak transcription	Ovary	ovary
39	chr5:76013000-76013800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr5:76013000-76013800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr5:76013000-76013800	Active TSS	Fetal Muscle Trunk	muscle
42	chr5:76013000-76013800	Weak transcription	Lung	lung
43	chr5:76013000-76013800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr5:76013000-76014000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:76013000-76014000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:76013000-76014000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:76013000-76014000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:76013000-76014000	Enhancers	Fetal Heart	heart
49	chr5:76013000-76014000	Flanking Active TSS	Fetal Lung	lung
50	chr5:76013000-76014000	Weak transcription	Small Intestine	intestine

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