Variant report

Variant	esv4783
Chromosome Location	chr3:140544348-140547167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144318307	chr3:140544371-140544372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202000558	chr3:140544409-140544410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184768133	chr3:140544528-140544529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77004671	chr3:140544570-140544571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531595422	chr3:140544615-140544616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189067217	chr3:140544689-140544690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557945300	chr3:140544691-140544692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148748575	chr3:140544718-140544719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369114972	chr3:140544774-140544775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79895879	chr3:140544797-140544798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552819084	chr3:140544863-140544864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151255941	chr3:140544864-140544865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140438804	chr3:140544892-140544893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145319130	chr3:140545034-140545035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181018111	chr3:140545090-140545091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563984996	chr3:140545091-140545092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531438848	chr3:140545125-140545126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549655339	chr3:140545154-140545155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13062614	chr3:140545222-140545223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111353633	chr3:140545320-140545321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191604969	chr3:140545355-140545356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181280463	chr3:140545364-140545365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201556398	chr3:140545366-140545367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567221924	chr3:140545397-140545398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11922809	chr3:140545413-140545414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76588101	chr3:140545420-140545421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185923889	chr3:140545422-140545423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575983287	chr3:140545426-140545427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537549688	chr3:140545490-140545491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555621681	chr3:140545531-140545532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7619596	chr3:140545594-140545595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190696477	chr3:140545611-140545612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142223448	chr3:140545723-140545724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553666643	chr3:140545727-140545728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373422961	chr3:140545828-140545829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578252338	chr3:140545876-140545877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183282524	chr3:140545928-140545929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78698221	chr3:140546039-140546040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569164130	chr3:140546051-140546052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145973047	chr3:140546203-140546204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138567883	chr3:140546277-140546278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77418385	chr3:140546298-140546299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148855905	chr3:140546340-140546341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540390784	chr3:140546384-140546385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547007047	chr3:140546439-140546440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537013474	chr3:140546475-140546476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77198079	chr3:140546479-140546480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551433445	chr3:140546598-140546599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368953109	chr3:140546601-140546602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569824617	chr3:140546641-140546642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140542000-140551400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:140542800-140546400	Weak transcription	HSMMtube	muscle
3	chr3:140544200-140547000	Weak transcription	HepG2	liver
4	chr3:140546400-140547200	Enhancers	HSMMtube	muscle
5	chr3:140547000-140548400	Enhancers	HepG2	liver

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