Variant report

Variant	esv3395646
Chromosome Location	chr3:140208062-140210010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34555530	chr3:140208081-140208082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554448978	chr3:140208139-140208140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569417315	chr3:140208208-140208209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536531524	chr3:140208226-140208227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554972346	chr3:140208248-140208249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574180455	chr3:140208249-140208250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566919244	chr3:140208273-140208274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534451472	chr3:140208349-140208350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552749742	chr3:140208377-140208378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541218111	chr3:140208383-140208384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543098930	chr3:140208423-140208424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376210008	chr3:140208448-140208449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561553057	chr3:140208551-140208552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577066448	chr3:140208590-140208591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74954936	chr3:140208615-140208616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148344495	chr3:140208670-140208671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556707997	chr3:140208707-140208708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557235792	chr3:140208725-140208726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373919799	chr3:140208763-140208764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367780068	chr3:140208764-140208765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141679894	chr3:140208765-140208766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542941730	chr3:140208781-140208782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545098316	chr3:140208796-140208797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199573013	chr3:140208847-140208848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145476726	chr3:140208853-140208854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141013180	chr3:140208934-140208935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573236725	chr3:140208939-140208940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375232041	chr3:140208960-140208961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71619382	chr3:140208961-140208962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71619383	chr3:140208963-140208964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370043641	chr3:140208965-140208966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373505652	chr3:140208967-140208968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192592614	chr3:140208977-140208978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550433143	chr3:140209003-140209004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540724815	chr3:140209074-140209075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565207023	chr3:140209103-140209104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532757377	chr3:140209158-140209159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550926513	chr3:140209243-140209244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143836184	chr3:140209305-140209306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530373272	chr3:140209327-140209328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118179489	chr3:140209337-140209338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147234322	chr3:140209350-140209351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560701828	chr3:140209371-140209372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529846774	chr3:140209374-140209375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138670292	chr3:140209394-140209395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149323261	chr3:140209400-140209401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376978157	chr3:140209438-140209439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369603052	chr3:140209439-140209440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571219225	chr3:140209452-140209453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71149081	chr3:140209458-140209459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140192200-140219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:140206200-140208600	Enhancers	HSMMtube	muscle
3	chr3:140208000-140208600	Enhancers	HSMM	muscle
4	chr3:140208600-140209200	Weak transcription	HSMM	muscle
5	chr3:140208600-140211600	Weak transcription	HSMMtube	muscle

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