Variant report

Variant	esv3522500
Chromosome Location	chr3:83891929-83894882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370666239	chr3:83891949-83891950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146530763	chr3:83891955-83891956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568043634	chr3:83891973-83891974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187832803	chr3:83892075-83892076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374050507	chr3:83892141-83892142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553888459	chr3:83892200-83892201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35592946	chr3:83892202-83892203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539614193	chr3:83892242-83892243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557985791	chr3:83892289-83892290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574955142	chr3:83892320-83892321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540438823	chr3:83892328-83892329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576361073	chr3:83892352-83892353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543689734	chr3:83892373-83892374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368708869	chr3:83892397-83892398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573959658	chr3:83892407-83892408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541103343	chr3:83892440-83892441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560345483	chr3:83892442-83892443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190257679	chr3:83892479-83892480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140957274	chr3:83892490-83892491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113611810	chr3:83892576-83892577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55682559	chr3:83892597-83892598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35189701	chr3:83892599-83892600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531053171	chr3:83892603-83892604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75187027	chr3:83892608-83892609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5850623	chr3:83892616-83892617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397875103	chr3:83892620-83892621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567899181	chr3:83892628-83892629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182937327	chr3:83892649-83892650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535440620	chr3:83892694-83892695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565731111	chr3:83892727-83892728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555014540	chr3:83892737-83892738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541175098	chr3:83892764-83892765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539546558	chr3:83892787-83892788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557924181	chr3:83892807-83892808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576180155	chr3:83892880-83892881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187575210	chr3:83892881-83892882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192474933	chr3:83892892-83892893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573870545	chr3:83892916-83892917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540999789	chr3:83892960-83892961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185017896	chr3:83892997-83892998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144783894	chr3:83892998-83892999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187849565	chr3:83893013-83893014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138197836	chr3:83893034-83893035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6797807	chr3:83893044-83893045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116296891	chr3:83893063-83893064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192482074	chr3:83893073-83893074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28716942	chr3:83893074-83893075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184512328	chr3:83893120-83893121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372103594	chr3:83893133-83893134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73842670	chr3:83893274-83893275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83883800-83897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83892800-83893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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