Variant report

Variant	rs45550437
Chromosome Location	chr5:40678688-40678689
allele	G/T
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	CEBPB	chr5:40678612-40679131	MCF-7	breast:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
2	POLR2A	chr5:40678244-40680457	NB4	blood:	n/a	n/a
3	MAX	chr5:40678144-40680687	NB4	blood:	n/a	n/a
4	RAD21	chr5:40678153-40679736	Hela-S3	cervix:	n/a	chr5:40679296-40679306 chr5:40679294-40679306
5	CEBPB	chr5:40678184-40680090	Hela-S3	cervix:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
6	TBP	chr5:40678152-40680190	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:40678671-40678992	K562	blood:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
8	POLR2A	chr5:40678512-40680410	U87	brain:	n/a	n/a
9	MXI1	chr5:40678177-40680144	Hela-S3	cervix:	n/a	n/a
10	FOS	chr5:40678151-40678905	MCF10A-Er-Src	breast:	n/a	chr5:40678453-40678462
11	CEBPB	chr5:40678555-40679069	A549	lung:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
12	CEBPB	chr5:40678667-40679358	A549	lung:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
13	POLR2A	chr5:40678546-40680369	PANC-1	pancreas:	n/a	n/a
14	RFX5	chr5:40678219-40680202	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:40678688-40679020	HepG2	liver:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
16	USF2	chr5:40678625-40679641	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:40678596-40680801	HL-60	blood:	n/a	n/a
18	CEBPB	chr5:40678652-40679420	IMR90	lung:	n/a	chr5:40678841-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678843-40678852 chr5:40678841-40678854 chr5:40678843-40678852 chr5:40678841-40678852 chr5:40678842-40678853 chr5:40678841-40678854
19	POLR2A	chr5:40678674-40680297	Hela-S3	cervix:	n/a	n/a
20	FOXA1	chr5:40678631-40678871	T-47D	breast:	n/a	chr5:40678756-40678771
21	STAT3	chr5:40678190-40679418	Hela-S3	cervix:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40678827-40678838 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40678832-40678840 chr5:40678844-40678852
22	POLR2A	chr5:40677912-40680908	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:40678223-40680323	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr5:40678513-40682518	HUVEC	blood vessel:	n/a	n/a
25	STAT1	chr5:40678305-40680617	Hela-S3	cervix:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40678832-40678840 chr5:40678844-40678852
26	POLR2A	chr5:40678573-40680352	HUVEC	blood vessel:	n/a	n/a
27	RCOR1	chr5:40678649-40680348	Hela-S3	cervix:	n/a	n/a
28	MYC	chr5:40677879-40679478	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr5:40678064-40679404	MCF10A-Er-Src	breast:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40678827-40678838 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40678832-40678840 chr5:40678844-40678852
30	MYC	chr5:40678668-40680140	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr5:40678136-40680339	NB4	blood:	n/a	n/a
32	POLR2A	chr5:40678630-40678855	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr5:40678296-40680410	U87	brain:	n/a	n/a
34	BRCA1	chr5:40678232-40680046	Hela-S3	cervix:	n/a	chr5:40678413-40678420
35	MAFK	chr5:40678642-40680121	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:40677884-40680287	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:40678631-40678774	HUVEC	blood vessel:	n/a	n/a
38	SMC3	chr5:40678616-40680409	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr5:40677211-40679447	MCF10A-Er-Src	breast:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40678827-40678838 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40677774-40677782 chr5:40678832-40678840 chr5:40678844-40678852
40	EP300	chr5:40678164-40679476	Hela-S3	cervix:	n/a	chr5:40678929-40678943 chr5:40679346-40679360 chr5:40679338-40679352 chr5:40679328-40679342 chr5:40678839-40678853 chr5:40679353-40679367 chr5:40679351-40679365 chr5:40679354-40679368 chr5:40679344-40679358 chr5:40678638-40678652
41	STAT3	chr5:40677902-40679305	MCF10A-Er-Src	breast:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40678827-40678838 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40678832-40678840 chr5:40678844-40678852
42	POLR2A	chr5:40678326-40680375	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:40678570-40680751	HUVEC	blood vessel:	n/a	n/a
44	FOXA1	chr5:40678585-40678895	T-47D	breast:	n/a	chr5:40678756-40678771
45	MAX	chr5:40678232-40680279	Hela-S3	cervix:	n/a	n/a
46	STAT3	chr5:40677717-40679441	MCF10A-Er-Src	breast:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40678827-40678838 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40677774-40677782 chr5:40678832-40678840 chr5:40678844-40678852

No.	Distal block	Cell Line	Cell type
1	chr14:94547017..94547649-chr5:40678640..40679465,2	Hela-S3	cervix:
2	chr15:65321890..65322402-chr5:40678654..40679608,2	NB4	blood:
3	chr5:40678654..40679643-chr5:89705625..89706304,2	NB4	blood:
4	chr5:40673402..40675876-chr5:40676322..40679263,4	K562	blood:
5	chr5:40505949..40508818-chr5:40677222..40679235,2	MCF-7	breast:
6	chr5:40677072..40679518-chr5:40680792..40683406,4	MCF-7	breast:
7	chr2:204103696..204104264-chr5:40678600..40679556,2	Hela-S3	cervix:

Variant related genes	Relation type
PTGER4	TF binding region
ENSG00000165948	Chromatin interaction
ENSG00000089737	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000103707	Chromatin interaction
ENSG00000119004	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
2	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3397684	chr5:40678645-40681143	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40675200-40678800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:40675800-40679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:40676000-40678800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:40676000-40679000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:40676000-40679000	Weak transcription	Esophagus	oesophagus
6	chr5:40676400-40678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:40676800-40679200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:40676800-40679200	Flanking Active TSS	HUVEC	blood vessel
9	chr5:40677000-40679000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:40677000-40679000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:40677400-40678800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:40677400-40678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:40677400-40679000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:40677400-40679000	Weak transcription	Gastric	stomach
15	chr5:40677400-40679000	Weak transcription	Pancreas	Pancrea
16	chr5:40677400-40679000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:40677400-40679000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:40677400-40680800	Active TSS	Duodenum Mucosa	Duodenum
19	chr5:40677400-40681000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:40677600-40679000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:40677600-40679000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:40677600-40679200	Weak transcription	Small Intestine	intestine
23	chr5:40677600-40679400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:40677800-40679400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:40677800-40680200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:40677800-40681000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:40678000-40679400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr5:40678200-40678800	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:40678200-40678800	Flanking Active TSS	Hela-S3	cervix
30	chr5:40678200-40678800	Flanking Active TSS	HMEC	breast
31	chr5:40678200-40678800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:40678200-40679200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:40678200-40679400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:40678200-40679400	Bivalent/Poised TSS	Fetal Kidney	kidney
35	chr5:40678200-40680400	Active TSS	Stomach Smooth Muscle	stomach
36	chr5:40678200-40680800	Active TSS	Dnd41	blood
37	chr5:40678400-40678800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:40678400-40678800	Bivalent Enhancer	GM12878-XiMat	blood
39	chr5:40678400-40678800	Active TSS	NHLF	lung
40	chr5:40678400-40679000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:40678400-40679000	Active TSS	Fetal Muscle Leg	muscle
42	chr5:40678400-40679000	Active TSS	Fetal Thymus	thymus
43	chr5:40678400-40679200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:40678400-40679400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr5:40678400-40679400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:40678400-40680800	Active TSS	A549	lung
47	chr5:40678400-40681000	Active TSS	Fetal Intestine Small	intestine
48	chr5:40678400-40681000	Active TSS	Thymus	Thymus
49	chr5:40678400-40681400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:40678400-40682000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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