Variant report

Variant	esv11939
Chromosome Location	chr3:97908878-97909348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533202418	chr3:97908885-97908886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3828459	chr3:97908900-97908901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563470204	chr3:97908907-97908908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3828458	chr3:97908921-97908922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562999931	chr3:97908926-97908927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3828457	chr3:97908931-97908932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545063889	chr3:97908954-97908955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3842581	chr3:97908976-97908977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34733629	chr3:97908979-97908980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112084009	chr3:97909007-97909008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3828456	chr3:97909022-97909023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78208574	chr3:97909031-97909032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141690793	chr3:97909046-97909047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386663683	chr3:97909072-97909073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113669947	chr3:97909073-97909074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3828454	chr3:97909074-97909075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs3828453	chr3:97909088-97909089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570218110	chr3:97909116-97909117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3828452	chr3:97909125-97909126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555750863	chr3:97909132-97909133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539763769	chr3:97909134-97909135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188524926	chr3:97909141-97909142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150502251	chr3:97909161-97909162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13071373	chr3:97909192-97909193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577753409	chr3:97909197-97909198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543218942	chr3:97909198-97909199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563522333	chr3:97909210-97909211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13094850	chr3:97909213-97909214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542919971	chr3:97909235-97909236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139477238	chr3:97909242-97909243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370897778	chr3:97909251-97909252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555467942	chr3:97909275-97909276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386663684	chr3:97909341-97909342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71617846	chr3:97909347-97909348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97907000-97910200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:97908400-97910000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:97908800-97910800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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