Variant report

Variant	rs372403019
Chromosome Location	chr5:57754890-57754891
allele	C/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	RAD21	chr5:57754174-57757575	SK-N-SH	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
2	STAT3	chr5:57754531-57754894	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr5:57754632-57755076	HCT-116	colon:	n/a	n/a
4	RAD21	chr5:57754101-57757035	IMR90	lung:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
5	BCL3	chr5:57754506-57755468	A549	lung:	n/a	chr5:57755438-57755451
6	CEBPB	chr5:57754662-57754918	A549	lung:	n/a	n/a
7	STAT3	chr5:57754588-57754896	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr5:57754889-57756996	SK-N-SH_RA	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
9	REST	chr5:57754597-57756257	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
11	CHD2	chr5:57754650-57756867	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr5:57754568-57755006	Hela-S3	cervix:	n/a	n/a
13	EP300	chr5:57754512-57757000	A549	lung:	n/a	chr5:57756094-57756103
14	TAF1	chr5:57754615-57755126	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr5:57754179-57756864	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
17	RAD21	chr5:57754545-57757114	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
18	FOS	chr5:57754573-57754974	MCF10A-Er-Src	breast:	n/a	n/a
19	JUND	chr5:57754551-57755131	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr5:57754641-57755375	Hela-S3	cervix:	n/a	n/a
21	MAFK	chr5:57754414-57754918	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:57754679-57755401	HepG2	liver:	n/a	n/a
23	TCF7L2	chr5:57754371-57755326	PANC-1	pancreas:	n/a	n/a
24	SIN3AK20	chr5:57754625-57755082	PANC-1	pancreas:	n/a	n/a
25	SMC3	chr5:57754211-57757082	Hela-S3	cervix:	n/a	chr5:57756242-57756249 chr5:57756237-57756251 chr5:57756235-57756249 chr5:57756740-57756754
26	FOSL2	chr5:57754156-57755413	A549	lung:	n/a	n/a
27	POLR2A	chr5:57750892-57756934	HUVEC	blood vessel:	n/a	n/a
28	RFX5	chr5:57754262-57755451	Hela-S3	cervix:	n/a	n/a
29	FOS	chr5:57754552-57754977	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:57754193-57755183	Hela-S3	cervix:	n/a	n/a
31	USF2	chr5:57754757-57755031	Hela-S3	cervix:	n/a	n/a
32	YY1	chr5:57754701-57755058	A549	lung:	n/a	n/a
33	POLR2A	chr5:57752745-57756859	MCF10A-Er-Src	breast:	n/a	n/a
34	REST	chr5:57753891-57757088	A549	lung:	n/a	n/a
35	SIN3AK20	chr5:57754576-57754958	A549	lung:	n/a	n/a
36	POLR2A	chr5:57754097-57756207	SK-N-SH	brain:	n/a	n/a
37	BRCA1	chr5:57754169-57754950	Hela-S3	cervix:	n/a	n/a
38	GTF3C2	chr5:57754084-57754999	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr5:57754494-57756867	H1-neurons	neurons:	n/a	n/a
40	FOS	chr5:57754585-57755007	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:57753945-57757071	IMR90	lung:	n/a	n/a
42	FOS	chr5:57754534-57754987	MCF10A-Er-Src	breast:	n/a	n/a
43	SIN3AK20	chr5:57749882-57757124	MCF-7	breast:	n/a	n/a
44	POLR2A	chr5:57751357-57756911	MCF10A-Er-Src	breast:	n/a	n/a
45	SIN3AK20	chr5:57753822-57757052	MCF-7	breast:	n/a	n/a
46	BCL3	chr5:57751905-57755240	A549	lung:	n/a	n/a
47	MXI1	chr5:57754212-57757144	IMR90	lung:	n/a	n/a
48	POLR2A	chr5:57752721-57756293	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr5:57754752-57756956	ECC-1	luminal epithelium:	n/a	n/a
50	REST	chr5:57753964-57757014	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57754151..57755936-chr7:55433318..55434853,2	MCF-7	breast:
2	chr17:57923573..57925801-chr5:57753845..57756826,2	MCF-7	breast:
3	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
4	chr5:57168184..57169711-chr5:57754494..57756798,2	MCF-7	breast:
5	chr5:56718251..56719814-chr5:57752697..57755659,2	MCF-7	breast:
6	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
ENSG00000266864	Chromatin interaction
ENSG00000238899	Chromatin interaction
ENSG00000132434	Chromatin interaction
ENSG00000250308	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000147789	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332078	chr5:57754795-57756793	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57748600-57755000	Transcr. at gene 5' and 3'	A549	lung
2	chr5:57749200-57755000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:57749200-57755000	Transcr. at gene 5' and 3'	NH-A	brain
4	chr5:57749600-57755000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:57750200-57755000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:57750800-57756800	Active TSS	Right Atrium	heart
8	chr5:57751000-57756800	Active TSS	Brain Angular Gyrus	brain
9	chr5:57751600-57756800	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:57751600-57756800	Active TSS	Right Ventricle	heart
11	chr5:57751600-57757000	Active TSS	Brain Hippocampus Middle	brain
12	chr5:57751800-57756800	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:57752000-57756600	Active TSS	Aorta	Aorta
14	chr5:57752200-57756200	Active TSS	Stomach Smooth Muscle	stomach
15	chr5:57752200-57756800	Active TSS	Fetal Stomach	stomach
16	chr5:57752200-57756800	Active TSS	Lung	lung
17	chr5:57752200-57756800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr5:57753000-57756800	Active TSS	Esophagus	oesophagus
19	chr5:57753200-57756200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:57753200-57756400	Active TSS	Duodenum Mucosa	Duodenum
21	chr5:57753400-57756600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:57753400-57756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:57753400-57756800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:57753400-57756800	Active TSS	Psoas Muscle	Psoas
25	chr5:57753600-57756200	Active TSS	Colonic Mucosa	Colon
26	chr5:57753600-57756800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:57753600-57756800	Active TSS	NHDF-Ad	bronchial
28	chr5:57753600-57757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:57753800-57755000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr5:57753800-57755800	Active TSS	Fetal Brain Male	brain
31	chr5:57753800-57756200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr5:57753800-57756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:57753800-57756800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr5:57754000-57755400	Active TSS	Fetal Brain Female	brain
35	chr5:57754000-57755800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:57754000-57756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:57754200-57755000	Bivalent/Poised TSS	Thymus	Thymus
38	chr5:57754200-57755200	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:57754200-57755200	Flanking Active TSS	Dnd41	blood
40	chr5:57754200-57755400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:57754200-57755400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:57754200-57756600	Active TSS	Gastric	stomach
43	chr5:57754200-57756600	Active TSS	Stomach Mucosa	stomach
44	chr5:57754200-57756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:57754200-57756800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr5:57754200-57756800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:57754200-57756800	Active TSS	Colon Smooth Muscle	Colon
48	chr5:57754200-57757000	Active TSS	Pancreas	Pancrea
49	chr5:57754400-57755000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr5:57754400-57755000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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