Variant report

Variant	esv1837260
Chromosome Location	chr3:98899782-98902911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98898412..98900467-chr3:98901353..98902956,2	MCF-7	breast:
2	chr3:98898412..98900467-chr3:98901353..98902956,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536893669	chr3:98900014-98900015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552338073	chr3:98900143-98900144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570611760	chr3:98900165-98900166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111706229	chr3:98900188-98900189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547684921	chr3:98902330-98902331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371249884	chr3:98902389-98902390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7641092	chr3:98902395-98902396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs774973	chr3:98902416-98902417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76157764	chr3:98902432-98902433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398091671	chr3:98902437-98902438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200556058	chr3:98902438-98902439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116192946	chr3:98902456-98902457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188148368	chr3:98902505-98902506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201886641	chr3:98902519-98902520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9857240	chr3:98902532-98902533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535526680	chr3:98902540-98902541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555078196	chr3:98902578-98902579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7629965	chr3:98902589-98902590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139406779	chr3:98902620-98902621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184276535	chr3:98902631-98902632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577098774	chr3:98902636-98902637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142637360	chr3:98902657-98902658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112881503	chr3:98902667-98902668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189479857	chr3:98902693-98902694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150550873	chr3:98902703-98902704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192472979	chr3:98902725-98902726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185494076	chr3:98902736-98902737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139515859	chr3:98902777-98902778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573463374	chr3:98902792-98902793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114482462	chr3:98902851-98902852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs774972	chr3:98902911-98902912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98899200-98900200	Enhancers	HMEC	breast
2	chr3:98901800-98912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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