Variant report

Variant	nsv589851
Chromosome Location	chr3:17544288-17545499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534748884	chr3:17544357-17544358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554327611	chr3:17544385-17544386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116354091	chr3:17544460-17544461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376729734	chr3:17544461-17544462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556545585	chr3:17544476-17544477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575301004	chr3:17544477-17544478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541775351	chr3:17544491-17544492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546385409	chr3:17544494-17544495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544428340	chr3:17544507-17544508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561794228	chr3:17544535-17544536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374511285	chr3:17544552-17544553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541204114	chr3:17544570-17544571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564285712	chr3:17544572-17544573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532956701	chr3:17544577-17544578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549955107	chr3:17544609-17544610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563526163	chr3:17544704-17544705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141169599	chr3:17544732-17544733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77520337	chr3:17544748-17544749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565714098	chr3:17544788-17544789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534692270	chr3:17544794-17544795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112512741	chr3:17544811-17544812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77673243	chr3:17544830-17544831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9820052	chr3:17544886-17544887	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77355634	chr3:17544893-17544894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556342418	chr3:17544896-17544897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78252688	chr3:17544922-17544923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143600737	chr3:17544949-17544950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555329606	chr3:17544973-17544974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540565758	chr3:17544984-17544985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146745376	chr3:17545008-17545009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559327059	chr3:17545011-17545012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541439735	chr3:17545139-17545140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564382859	chr3:17545140-17545141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578050615	chr3:17545175-17545176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528057453	chr3:17545220-17545221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74843977	chr3:17545238-17545239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548131776	chr3:17545269-17545270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148908451	chr3:17545280-17545281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74688749	chr3:17545303-17545304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559704734	chr3:17545312-17545313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372607329	chr3:17545313-17545314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530573007	chr3:17545423-17545424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551366585	chr3:17545464-17545465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550803264	chr3:17545467-17545468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571209113	chr3:17545497-17545498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17523000-17570000	Weak transcription	Spleen	Spleen
2	chr3:17523200-17556200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:17530600-17587600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17533200-17550600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:17533400-17549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:17533600-17547200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:17534000-17546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:17534000-17559800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:17534200-17561600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:17535600-17552000	Weak transcription	Primary T cells from cord blood	blood
11	chr3:17536000-17549800	Weak transcription	Fetal Lung	lung
12	chr3:17536200-17555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:17536400-17559800	Weak transcription	Adipose Nuclei	Adipose
14	chr3:17536400-17562600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:17536400-17568800	Weak transcription	GM12878-XiMat	blood
16	chr3:17536400-17574800	Weak transcription	Dnd41	blood
17	chr3:17536600-17547600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:17536600-17559600	Weak transcription	Fetal Stomach	stomach
19	chr3:17536600-17560400	Weak transcription	Fetal Intestine Large	intestine
20	chr3:17536600-17561600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:17536600-17562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:17536600-17588000	Weak transcription	Left Ventricle	heart
23	chr3:17536800-17547800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr3:17537200-17560000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:17538600-17546800	Weak transcription	Aorta	Aorta
26	chr3:17538600-17551600	Weak transcription	Placenta	Placenta
27	chr3:17541800-17545200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:17542600-17546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:17542600-17546800	Weak transcription	HUVEC	blood vessel
30	chr3:17542600-17547200	Weak transcription	A549	lung
31	chr3:17542800-17546800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:17543000-17547400	Weak transcription	NHEK	skin
33	chr3:17543200-17545800	Strong transcription	Primary B cells from cord blood	blood
34	chr3:17543400-17545600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr3:17543600-17547600	Weak transcription	Fetal Heart	heart
36	chr3:17543800-17544400	Strong transcription	Liver	Liver
37	chr3:17544000-17545600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr3:17544400-17551600	Weak transcription	Liver	Liver

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