Variant report

Variant	esv3527962
Chromosome Location	chr3:89509860-89516108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539751755	chr3:89509861-89509862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558123214	chr3:89509862-89509863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576150966	chr3:89509919-89509920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537276618	chr3:89509934-89509935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182353666	chr3:89509945-89509946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555156144	chr3:89509966-89509967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369572746	chr3:89509974-89509975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201843797	chr3:89510073-89510074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386663326	chr3:89510080-89510081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570269167	chr3:89510081-89510082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375199255	chr3:89510125-89510126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3860568	chr3:89510128-89510129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7647741	chr3:89510238-89510239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201105456	chr3:89510590-89510591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9637529	chr3:89511229-89511230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7433780	chr3:89511231-89511232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9637530	chr3:89511250-89511251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9637531	chr3:89511293-89511294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573698709	chr3:89511349-89511350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7427734	chr3:89511386-89511387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9637532	chr3:89511667-89511668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199810548	chr3:89511999-89512000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200016271	chr3:89512275-89512276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201005365	chr3:89512279-89512280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202095478	chr3:89515365-89515366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540642749	chr3:89515586-89515587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563306564	chr3:89515622-89515623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539292152	chr3:89515629-89515630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575205492	chr3:89515630-89515631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59891056	chr3:89515634-89515635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558928318	chr3:89515674-89515675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368818252	chr3:89515679-89515680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563907850	chr3:89515690-89515691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372787255	chr3:89515723-89515724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546080144	chr3:89515808-89515809	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564487429	chr3:89515834-89515835	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531791427	chr3:89515841-89515842	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544009605	chr3:89515843-89515844	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562012272	chr3:89515871-89515872	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375630350	chr3:89515940-89515941	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529391072	chr3:89515946-89515947	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547772050	chr3:89515953-89515954	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566067090	chr3:89515985-89515986	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371548930	chr3:89516006-89516007	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114208068	chr3:89516011-89516012	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114082926	chr3:89516015-89516016	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569965395	chr3:89516018-89516019	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147138606	chr3:89516023-89516024	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555560720	chr3:89516033-89516034	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567205543	chr3:89516035-89516036	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89460800-89521200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:89500800-89532400	Weak transcription	Fetal Brain Female	brain
3	chr3:89501400-89521600	Weak transcription	Brain Germinal Matrix	brain
4	chr3:89504000-89519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:89506600-89527800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:89509000-89517000	Weak transcription	Fetal Stomach	stomach
7	chr3:89515800-89516200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:89515800-89516200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:89515800-89516200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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