Variant report

Variant	esv3368020
Chromosome Location	chr3:139204462-139206360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185250139	chr3:139204471-139204472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78684868	chr3:139204493-139204494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35214536	chr3:139204502-139204503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188518489	chr3:139204532-139204533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535129799	chr3:139204534-139204535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548442049	chr3:139204542-139204543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376131757	chr3:139204544-139204545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568446611	chr3:139204566-139204567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193232141	chr3:139204567-139204568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185446066	chr3:139204570-139204571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189382263	chr3:139204621-139204622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140455078	chr3:139204627-139204628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577255570	chr3:139204645-139204646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372900896	chr3:139204664-139204665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374846176	chr3:139204685-139204686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116491292	chr3:139204698-139204699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553193288	chr3:139204705-139204706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573162658	chr3:139204725-139204726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71314514	chr3:139204813-139204814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545049567	chr3:139204829-139204830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180702085	chr3:139204831-139204832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371230251	chr3:139204930-139204931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561942058	chr3:139204931-139204932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575657203	chr3:139204937-139204938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544412568	chr3:139204994-139204995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386666342	chr3:139205032-139205033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564233486	chr3:139205083-139205084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183627469	chr3:139205169-139205170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13084900	chr3:139205199-139205200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532987315	chr3:139205200-139205201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368411510	chr3:139205202-139205203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373325883	chr3:139205212-139205213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114387692	chr3:139205213-139205214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188529128	chr3:139205217-139205218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71146186	chr3:139205222-139205223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201932358	chr3:139205233-139205234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13084919	chr3:139205234-139205235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13062303	chr3:139205235-139205236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372216241	chr3:139205264-139205265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375987233	chr3:139205265-139205266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142209502	chr3:139205278-139205279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7433626	chr3:139205279-139205280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7427610	chr3:139205281-139205282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11914979	chr3:139205283-139205284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367566332	chr3:139205293-139205294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375187077	chr3:139205295-139205296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144325577	chr3:139205297-139205298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71146187	chr3:139205299-139205300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200173241	chr3:139205306-139205307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148016509	chr3:139205308-139205309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139171200-139210200	Weak transcription	Stomach Smooth Muscle	stomach

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