Variant report

Variant	esv3322106
Chromosome Location	chr3:84218462-84222660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 274 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57890196	chr3:84218509-84218510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553833047	chr3:84218532-84218533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531943760	chr3:84218540-84218541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76809508	chr3:84218578-84218579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562068388	chr3:84218593-84218594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113401310	chr3:84218597-84218598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116712443	chr3:84218618-84218619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566556380	chr3:84218727-84218728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187290636	chr3:84218749-84218750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552256150	chr3:84218753-84218754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570517833	chr3:84218770-84218771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192119021	chr3:84218794-84218795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372170283	chr3:84218803-84218804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184712758	chr3:84218849-84218850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535840190	chr3:84218877-84218878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554254743	chr3:84218900-84218901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572407889	chr3:84218913-84218914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545937597	chr3:84218951-84218952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564621686	chr3:84218956-84218957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146448310	chr3:84218972-84218973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187522346	chr3:84218973-84218974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562031142	chr3:84219026-84219027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111298747	chr3:84219047-84219048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148648108	chr3:84219073-84219074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554277075	chr3:84219118-84219119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201931988	chr3:84219120-84219121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570493960	chr3:84219123-84219124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570945126	chr3:84219124-84219125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527294366	chr3:84219153-84219154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12637371	chr3:84219156-84219157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142058066	chr3:84219172-84219173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553565893	chr3:84219184-84219185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542965158	chr3:84219187-84219188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554655240	chr3:84219210-84219211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550040801	chr3:84219212-84219213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568360995	chr3:84219216-84219217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535701634	chr3:84219306-84219307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554045421	chr3:84219333-84219334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565902690	chr3:84219387-84219388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112246461	chr3:84219409-84219410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114398534	chr3:84219421-84219422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545263928	chr3:84219433-84219434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565582143	chr3:84219434-84219435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576446078	chr3:84219463-84219464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543616046	chr3:84219513-84219514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113484775	chr3:84219619-84219620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369719754	chr3:84219632-84219633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73123405	chr3:84219642-84219643	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193212092	chr3:84219654-84219655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185644115	chr3:84219659-84219660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84215200-84248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:84217800-84219200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:84219200-84220400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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