Variant report

Variant	esv3432129
Chromosome Location	chr5:37314643-37315095
allele	n/a
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	chr5:37315044-37315050	MCF-7	breast:	n/a	n/a
2	POLR2A	chr5:37314739-37314791	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:37314989-37314993	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37313041..37316016-chr5:37316235..37320190,3	K562	blood:
2	chr5:37313041..37316016-chr5:37316235..37319015,2	K562	blood:
3	chr5:37308340..37310527-chr5:37313095..37315302,2	K562	blood:

Variant related genes	Relation type
NUP155	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565448154	chr5:37314678-37314679	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146792256	chr5:37314681-37314682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs41270331	chr5:37314689-37314690	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535148764	chr5:37314701-37314702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192685891	chr5:37314738-37314739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184366524	chr5:37314741-37314742	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372830248	chr5:37314742-37314743	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567348800	chr5:37314755-37314756	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189310954	chr5:37314799-37314800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546495791	chr5:37314800-37314801	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568620904	chr5:37314907-37314908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568169951	chr5:37314915-37314916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537283907	chr5:37314922-37314923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538562578	chr5:37314988-37314989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181969517	chr5:37314990-37314991	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568949468	chr5:37314997-37314998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557629508	chr5:37315009-37315010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536227226	chr5:37315015-37315016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554668530	chr5:37315041-37315042	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573021808	chr5:37315051-37315052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561633573	chr5:37315066-37315067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143140718	chr5:37315072-37315073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Autism	22549408	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37288200-37320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:37289000-37369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:37289800-37323600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:37296400-37365400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:37296400-37369000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:37296600-37318600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:37296800-37316600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:37296800-37316800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:37296800-37318400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr5:37296800-37320200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:37296800-37321600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:37296800-37353200	Strong transcription	Fetal Thymus	thymus
13	chr5:37296800-37358400	Strong transcription	Placenta	Placenta
14	chr5:37296800-37358600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:37296800-37358600	Strong transcription	Liver	Liver
16	chr5:37296800-37359000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:37296800-37359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:37296800-37359800	Strong transcription	Fetal Intestine Large	intestine
19	chr5:37296800-37360000	Strong transcription	Adipose Nuclei	Adipose
20	chr5:37296800-37364600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:37296800-37364600	Strong transcription	Dnd41	blood
22	chr5:37296800-37365600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:37297000-37316800	Strong transcription	Primary T cells from cord blood	blood
24	chr5:37297000-37329600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:37297000-37333200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:37297000-37364200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:37297000-37365400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:37297200-37317800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:37297200-37330600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:37297200-37358800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:37297400-37316000	Strong transcription	HUVEC	blood vessel
32	chr5:37297400-37318200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:37297400-37334400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:37297400-37364600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:37297800-37324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:37297800-37359800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:37298600-37316600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr5:37298600-37337800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:37299600-37329400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:37305200-37327600	Weak transcription	Fetal Heart	heart
41	chr5:37305400-37315200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:37305800-37317800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:37306000-37315600	Weak transcription	Brain Substantia Nigra	brain
44	chr5:37306600-37316200	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:37307800-37368600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:37308000-37324600	Weak transcription	Small Intestine	intestine
47	chr5:37308600-37316600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:37308800-37316800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:37308800-37317000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:37308800-37317800	Strong transcription	Primary B cells from peripheral blood	blood

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