Variant report

Variant	rs2227753
Chromosome Location	chr5:76014376-76014377
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	chr5:76011041-76015191	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr5:76013980-76014865	HUVEC	blood vessel:	n/a	chr5:76014400-76014410
3	MAFK	chr5:76014266-76014672	IMR90	lung:	n/a	chr5:76014486-76014506 chr5:76014488-76014504 chr5:76014492-76014502
4	POLR2A	chr5:76013477-76014492	MCF10A-Er-Src	breast:	n/a	n/a
5	JUN	chr5:76014169-76014865	HUVEC	blood vessel:	n/a	chr5:76014475-76014485
6	POLR2A	chr5:76013221-76014457	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr5:76010938-76016234	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr5:76011173-76015204	SK-N-SH	brain:	n/a	n/a
9	FOS	chr5:76014126-76014855	HUVEC	blood vessel:	n/a	chr5:76014475-76014485
10	MYC	chr5:76014316-76014380	HUVEC	blood vessel:	n/a	n/a
11	TAF1	chr5:76014196-76014398	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr5:76014118-76015161	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr5:76011096-76014987	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr5:76011442-76014817	IMR90	lung:	n/a	n/a
15	POLR2A	chr5:76010859-76015123	HUVEC	blood vessel:	n/a	n/a
16	CEBPB	chr5:76014321-76014695	IMR90	lung:	n/a	n/a
17	POLR2A	chr5:76014025-76014543	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr5:76010957-76015172	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000225407	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17681908	1.00[GIH][hapmap]
rs2227746	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2227749	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2227757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61370375	0.82[ASN][1000 genomes]
rs61557265	0.82[ASN][1000 genomes]
rs73127579	0.81[ASN][1000 genomes]
rs73127582	0.86[ASN][1000 genomes]
rs73127587	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73127593	0.82[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

No data

Chromatin state (count:74 , 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	chr5:76011200-76014400	Active TSS	Fetal Kidney	kidney
3	chr5:76012400-76014800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:76012800-76014400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:76012800-76014400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
6	chr5:76012800-76014800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:76012800-76018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:76013000-76014400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:76013000-76014800	Weak transcription	Spleen	Spleen
10	chr5:76013000-76028400	Weak transcription	Aorta	Aorta
11	chr5:76013000-76032000	Weak transcription	HSMM	muscle
12	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:76013200-76014400	Enhancers	HepG2	liver
14	chr5:76013400-76014400	Flanking Active TSS	Osteobl	bone
15	chr5:76013400-76014800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:76013400-76017400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:76013400-76017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:76013400-76020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:76013600-76014400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:76013600-76014400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:76013600-76014800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:76013600-76015000	Transcr. at gene 5' and 3'	NHLF	lung
23	chr5:76013600-76016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:76013800-76014400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:76013800-76014400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:76013800-76014400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:76013800-76014400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:76013800-76014400	Enhancers	Left Ventricle	heart
29	chr5:76013800-76014400	Enhancers	Right Atrium	heart
30	chr5:76013800-76014400	Enhancers	HMEC	breast
31	chr5:76013800-76014600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:76013800-76014600	Enhancers	NHEK	skin
33	chr5:76013800-76015000	Active TSS	Duodenum Mucosa	Duodenum
34	chr5:76013800-76017400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:76013800-76017400	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:76013800-76020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:76013800-76020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:76013800-76023000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:76013800-76023200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:76013800-76028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:76013800-76030800	Weak transcription	Ovary	ovary
42	chr5:76014000-76014400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:76014000-76014400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:76014000-76014400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:76014000-76014400	Enhancers	Fetal Lung	lung
46	chr5:76014000-76014400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:76014000-76014400	Enhancers	Small Intestine	intestine
48	chr5:76014000-76014400	Enhancers	K562	blood
49	chr5:76014000-76015000	Enhancers	Fetal Brain Male	brain
50	chr5:76014000-76015000	Enhancers	Fetal Muscle Trunk	muscle

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