Variant report

Variant	esv3448059
Chromosome Location	chr5:37457245-37461943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573866841	chr5:37457253-37457254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577922056	chr5:37457258-37457259	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533937026	chr5:37457259-37457260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554280782	chr5:37457310-37457311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542599783	chr5:37457337-37457338	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567969653	chr5:37457356-37457357	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs71619868	chr5:37457423-37457424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535403793	chr5:37457442-37457443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574029345	chr5:37457445-37457446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547534736	chr5:37457450-37457451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182900166	chr5:37457513-37457514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539689073	chr5:37457565-37457566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112754401	chr5:37457578-37457579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4418127	chr5:37457584-37457585	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536949352	chr5:37457603-37457604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113861980	chr5:37457638-37457639	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573966383	chr5:37457640-37457641	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576413776	chr5:37457658-37457659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564659934	chr5:37457660-37457661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545279726	chr5:37457706-37457707	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541010150	chr5:37457714-37457715	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187782983	chr5:37457731-37457732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577712990	chr5:37457740-37457741	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545238545	chr5:37457752-37457753	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563741167	chr5:37457753-37457754	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531088917	chr5:37457792-37457793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78302422	chr5:37457862-37457863	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144130623	chr5:37457863-37457864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561595273	chr5:37457869-37457870	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146527549	chr5:37457874-37457875	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547410676	chr5:37457901-37457902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140982230	chr5:37457926-37457927	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539546434	chr5:37457945-37457946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551447172	chr5:37457957-37457958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143155417	chr5:37457960-37457961	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192447574	chr5:37457976-37457977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148217645	chr5:37457977-37457978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567530280	chr5:37458066-37458067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199747139	chr5:37458206-37458207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561063796	chr5:37458273-37458274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200903239	chr5:37458658-37458659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201857869	chr5:37458661-37458662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199961030	chr5:37458937-37458938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200620152	chr5:37459058-37459059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534742930	chr5:37459082-37459083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529712020	chr5:37459103-37459104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552941137	chr5:37459184-37459185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201586683	chr5:37459205-37459206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199892761	chr5:37459334-37459335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202053615	chr5:37459398-37459399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37410600-37471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:37413000-37457400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:37418200-37460000	Weak transcription	Brain Angular Gyrus	brain
4	chr5:37420800-37480200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:37421600-37478400	Weak transcription	Aorta	Aorta
6	chr5:37424800-37463600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:37425400-37480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:37425800-37471000	Weak transcription	Fetal Lung	lung
9	chr5:37426000-37479800	Weak transcription	HSMM	muscle
10	chr5:37426800-37463600	Weak transcription	HSMMtube	muscle
11	chr5:37431800-37471000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:37435600-37480000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:37436800-37463000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:37441000-37464600	Weak transcription	Psoas Muscle	Psoas
15	chr5:37445200-37467600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:37445200-37471000	Weak transcription	Left Ventricle	heart
17	chr5:37445200-37479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:37445200-37480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:37445200-37480200	Weak transcription	Ovary	ovary
20	chr5:37445200-37480200	Weak transcription	Thymus	Thymus
21	chr5:37445400-37458200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:37445400-37459000	Weak transcription	Fetal Intestine Large	intestine
23	chr5:37445400-37471000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:37445400-37480200	Weak transcription	Hela-S3	cervix
25	chr5:37445600-37463400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:37445600-37471000	Weak transcription	Fetal Thymus	thymus
27	chr5:37445600-37480000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:37451800-37477000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:37452000-37470800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:37452000-37471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:37452000-37471000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:37452800-37470600	Weak transcription	Liver	Liver
33	chr5:37452800-37470800	Weak transcription	Primary T cells from cord blood	blood
34	chr5:37452800-37471000	Weak transcription	Fetal Stomach	stomach
35	chr5:37453200-37457800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:37453200-37463400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:37453200-37470600	Weak transcription	Dnd41	blood
38	chr5:37453200-37470800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:37454200-37457400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:37454200-37470600	Weak transcription	Primary B cells from cord blood	blood
41	chr5:37455000-37471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:37455200-37468800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:37456600-37457600	Weak transcription	Pancreas	Pancrea
44	chr5:37457200-37457400	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr5:37457200-37458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:37457400-37457600	Weak transcription	Fetal Intestine Small	intestine
47	chr5:37457400-37458000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:37458000-37463400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:37458000-37463600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:37458000-37480200	Weak transcription	Right Ventricle	heart

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