Variant report

Variant	nsv597848
Chromosome Location	chr5:37481305-37484957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10473047	chr5:37481305-37481306	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542829101	chr5:37481306-37481307	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555084591	chr5:37481326-37481327	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573553745	chr5:37481348-37481349	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183369497	chr5:37481357-37481358	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35660430	chr5:37481430-37481431	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112035755	chr5:37481432-37481433	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35876609	chr5:37481438-37481439	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192002302	chr5:37481488-37481489	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185248319	chr5:37481504-37481505	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545006176	chr5:37481505-37481506	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533187074	chr5:37481508-37481509	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575456552	chr5:37481514-37481515	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542871093	chr5:37481515-37481516	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4607371	chr5:37481538-37481539	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572113293	chr5:37481545-37481546	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113892943	chr5:37481630-37481631	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56406522	chr5:37481633-37481634	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565369194	chr5:37481635-37481636	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528994653	chr5:37481681-37481682	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532800553	chr5:37481777-37481778	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146634887	chr5:37481794-37481795	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12188658	chr5:37481811-37481812	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549142357	chr5:37481892-37481893	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4463198	chr5:37481897-37481898	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567184957	chr5:37481952-37481953	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188765097	chr5:37481964-37481965	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552700070	chr5:37481976-37481977	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577324061	chr5:37482025-37482026	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116381928	chr5:37482033-37482034	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369163452	chr5:37482044-37482045	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556751725	chr5:37482054-37482055	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151288444	chr5:37482059-37482060	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192646983	chr5:37482067-37482068	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561218760	chr5:37482072-37482073	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140563737	chr5:37482076-37482077	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4451074	chr5:37482102-37482103	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377326712	chr5:37482140-37482141	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4610485	chr5:37482224-37482225	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4618453	chr5:37482250-37482251	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376215982	chr5:37482257-37482258	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544691511	chr5:37482263-37482264	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185035512	chr5:37482267-37482268	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530300238	chr5:37482272-37482273	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370410258	chr5:37482305-37482306	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571503408	chr5:37482319-37482320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188141016	chr5:37482329-37482330	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527934746	chr5:37482330-37482331	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4394151	chr5:37482341-37482342	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570873804	chr5:37482349-37482350	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37463800-37489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:37466000-37494400	Weak transcription	Osteobl	bone
3	chr5:37471600-37492400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:37472200-37481600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:37472800-37483800	Weak transcription	Fetal Heart	heart
6	chr5:37476600-37513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:37477000-37482600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:37477000-37504400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:37477400-37483000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:37477600-37481400	Strong transcription	Primary T cells from cord blood	blood
11	chr5:37478000-37483200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:37478200-37482800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:37478400-37481800	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr5:37478400-37502800	Weak transcription	Psoas Muscle	Psoas
15	chr5:37478600-37482400	Weak transcription	Spleen	Spleen
16	chr5:37478600-37492800	Weak transcription	Stomach Mucosa	stomach
17	chr5:37478600-37494600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:37478600-37502600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:37479200-37482800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:37479400-37482800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:37479600-37481400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:37479600-37481600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:37479600-37482000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr5:37479600-37483200	Strong transcription	Liver	Liver
25	chr5:37479600-37486000	Weak transcription	HUVEC	blood vessel
26	chr5:37479800-37481400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:37479800-37481400	Strong transcription	Fetal Lung	lung
28	chr5:37479800-37481800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:37479800-37481800	Strong transcription	Brain Substantia Nigra	brain
30	chr5:37479800-37482200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:37479800-37482200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:37479800-37482400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr5:37479800-37482600	Strong transcription	Dnd41	blood
34	chr5:37479800-37482800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:37479800-37482800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr5:37479800-37482800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:37479800-37482800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:37479800-37482800	Strong transcription	Brain Anterior Caudate	brain
39	chr5:37479800-37482800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr5:37479800-37483000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:37479800-37483000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:37479800-37483600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:37480000-37481600	Strong transcription	A549	lung
44	chr5:37480000-37481800	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr5:37480000-37482200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:37480000-37482200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:37480000-37482200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:37480000-37482600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:37480000-37482600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr5:37480000-37482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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