Variant report

Variant	esv3365352
Chromosome Location	chr3:105642482-105643118
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	chr3:105643011..105645255-chr3:105645507..105647155,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139603324	chr3:105642491-105642492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368015288	chr3:105642494-105642495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184902853	chr3:105642495-105642496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188772444	chr3:105642508-105642509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59825800	chr3:105642563-105642564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150607122	chr3:105642590-105642591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557488332	chr3:105642593-105642594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572607530	chr3:105642601-105642602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139699132	chr3:105642648-105642649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570848403	chr3:105642674-105642675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13097408	chr3:105642735-105642736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573560392	chr3:105642771-105642772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543835752	chr3:105642772-105642773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371840790	chr3:105642773-105642774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149840095	chr3:105642789-105642790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570976466	chr3:105642801-105642802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531189296	chr3:105642803-105642804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112437150	chr3:105642809-105642810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142713462	chr3:105642810-105642811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564668948	chr3:105642813-105642814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533204102	chr3:105642817-105642818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71111389	chr3:105642820-105642821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140693294	chr3:105642821-105642822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547101788	chr3:105642845-105642846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181502697	chr3:105642851-105642852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539483955	chr3:105642855-105642856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73198264	chr3:105642919-105642920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550663675	chr3:105643044-105643045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577483387	chr3:105643046-105643047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569140015	chr3:105643063-105643064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140237893	chr3:105643071-105643072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557577682	chr3:105643072-105643073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572690888	chr3:105643073-105643074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533674521	chr3:105643075-105643076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186137107	chr3:105643085-105643086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189290822	chr3:105643095-105643096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576258059	chr3:105643109-105643110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535212764	chr3:105643114-105643115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105640800-105642800	Enhancers	Placenta	Placenta
2	chr3:105641800-105642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:105642800-105651000	Weak transcription	Placenta	Placenta

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