Variant report

Variant	esv3338424
Chromosome Location	chr5:37620365-37621362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112612316	chr5:37620372-37620373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34215253	chr5:37620373-37620374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377076043	chr5:37620376-37620377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199555012	chr5:37620377-37620378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10622665	chr5:37620380-37620381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113387185	chr5:37620381-37620382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571004709	chr5:37620385-37620386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538752750	chr5:37620417-37620418	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139822701	chr5:37620499-37620500	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575208096	chr5:37620528-37620529	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542529528	chr5:37620539-37620540	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554905950	chr5:37620612-37620613	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144480785	chr5:37620632-37620633	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193120585	chr5:37620654-37620655	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182912860	chr5:37620663-37620664	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536379918	chr5:37620683-37620684	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532630701	chr5:37620691-37620692	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79037110	chr5:37620720-37620721	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146162718	chr5:37620745-37620746	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78850565	chr5:37620746-37620747	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548555738	chr5:37620756-37620757	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576177532	chr5:37620831-37620832	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187539181	chr5:37620870-37620871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528019986	chr5:37620878-37620879	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10941353	chr5:37620924-37620925	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570744295	chr5:37620940-37620941	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35744008	chr5:37620973-37620974	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142379953	chr5:37620975-37620976	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568713263	chr5:37620995-37620996	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536253164	chr5:37621044-37621045	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375407654	chr5:37621066-37621067	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554645257	chr5:37621072-37621073	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573173241	chr5:37621075-37621076	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534111894	chr5:37621076-37621077	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113540153	chr5:37621099-37621100	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558769447	chr5:37621197-37621198	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78092348	chr5:37621212-37621213	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544354749	chr5:37621247-37621248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78505728	chr5:37621298-37621299	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs191621240	chr5:37621314-37621315	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541814305	chr5:37621330-37621331	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576716364	chr5:37621357-37621358	Weak transcription Strong transcription ZNF genes & repeats	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37540000-37621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:37572200-37620600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:37588800-37628000	Weak transcription	Ovary	ovary
4	chr5:37600000-37620600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:37600800-37627200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:37601600-37620800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:37601600-37628600	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:37601800-37620600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:37602000-37630800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:37602200-37626200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:37602800-37628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:37603000-37621800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:37603600-37627600	Weak transcription	Liver	Liver
14	chr5:37603600-37628000	Weak transcription	Thymus	Thymus
15	chr5:37604000-37627200	Weak transcription	Lung	lung
16	chr5:37604800-37625400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:37604800-37630400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:37605000-37628800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:37605400-37622600	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:37605400-37628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:37606200-37629000	Weak transcription	Fetal Thymus	thymus
22	chr5:37606400-37637800	Weak transcription	Esophagus	oesophagus
23	chr5:37607200-37628000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:37607800-37620800	Weak transcription	GM12878-XiMat	blood
25	chr5:37608200-37627200	Weak transcription	Left Ventricle	heart
26	chr5:37608400-37620400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:37608400-37621000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:37608600-37620800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:37608600-37626600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:37608800-37620600	Weak transcription	Psoas Muscle	Psoas
31	chr5:37609400-37627400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:37609800-37620400	Weak transcription	Primary B cells from cord blood	blood
33	chr5:37610000-37627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:37610200-37620400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:37610200-37624600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:37613800-37637600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:37615800-37626200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:37615800-37628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:37616200-37621000	Weak transcription	HSMM	muscle
40	chr5:37616200-37622400	Weak transcription	NHDF-Ad	bronchial
41	chr5:37616200-37622800	Weak transcription	Adipose Nuclei	Adipose
42	chr5:37616200-37630200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:37616200-37639400	Weak transcription	Fetal Heart	heart
44	chr5:37618600-37629200	Weak transcription	Fetal Intestine Large	intestine
45	chr5:37619200-37620800	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:37619400-37621200	Enhancers	Colon Smooth Muscle	Colon
47	chr5:37619400-37622000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:37619400-37626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:37619400-37632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:37619600-37627200	Weak transcription	Fetal Stomach	stomach

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