Variant report

Variant	esv2156570
Chromosome Location	chr3:89260744-89261114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60648607	chr3:89260745-89260746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539862088	chr3:89260766-89260767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77167004	chr3:89260794-89260795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78364009	chr3:89260816-89260817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144015652	chr3:89260817-89260818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78338751	chr3:89260819-89260820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576536927	chr3:89260856-89260857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544247033	chr3:89260875-89260876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200618366	chr3:89260876-89260877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563775922	chr3:89260880-89260881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531123507	chr3:89260884-89260885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200349635	chr3:89260887-89260888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9310114	chr3:89260892-89260893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373817502	chr3:89260899-89260900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371791980	chr3:89260902-89260903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564755361	chr3:89260905-89260906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374736126	chr3:89260908-89260909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183638383	chr3:89260910-89260911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368794202	chr3:89260920-89260921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528792444	chr3:89260931-89260932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561542130	chr3:89260936-89260937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71628837	chr3:89260967-89260968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78555850	chr3:89260970-89260971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188124666	chr3:89260993-89260994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538760271	chr3:89261041-89261042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11720651	chr3:89261061-89261062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568999732	chr3:89261065-89261066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536435292	chr3:89261097-89261098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Obesity	19966786	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89250200-89263200	Weak transcription	Fetal Brain Female	brain
2	chr3:89250400-89261800	Weak transcription	Fetal Brain Male	brain
3	chr3:89258200-89261600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:89259600-89262000	Weak transcription	Fetal Lung	lung
5	chr3:89259800-89263200	Weak transcription	Brain Germinal Matrix	brain
6	chr3:89259800-89266200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:89259800-89266600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:89260400-89265800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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