Variant report

Variant	esv3345521
Chromosome Location	chr3:82193922-82195370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575537027	chr3:82193959-82193960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570883628	chr3:82193961-82193962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192005074	chr3:82194006-82194007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373237970	chr3:82194063-82194064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6797285	chr3:82194083-82194084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370608684	chr3:82194114-82194115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576141860	chr3:82194124-82194125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560378436	chr3:82194187-82194188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182067034	chr3:82194205-82194206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186659335	chr3:82194257-82194258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142912400	chr3:82194281-82194282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531180277	chr3:82194360-82194361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551360312	chr3:82194361-82194362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564597854	chr3:82194378-82194379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527377928	chr3:82194415-82194416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199669496	chr3:82194422-82194423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567227193	chr3:82194459-82194460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547138839	chr3:82194462-82194463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566704852	chr3:82194482-82194483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375100158	chr3:82194483-82194484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529528279	chr3:82194493-82194494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549380155	chr3:82194523-82194524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569552118	chr3:82194531-82194532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537801905	chr3:82194533-82194534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530340145	chr3:82194558-82194559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537461103	chr3:82194588-82194589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374444556	chr3:82194807-82194808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576296009	chr3:82194815-82194816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545015939	chr3:82194858-82194859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12107475	chr3:82194881-82194882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571994429	chr3:82194884-82194885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540711230	chr3:82194916-82194917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146667145	chr3:82194930-82194931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529441328	chr3:82194938-82194939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199618891	chr3:82194966-82194967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188128697	chr3:82194979-82194980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558372093	chr3:82194989-82194990	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82193400-82194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:82194800-82195000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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