Variant report

Variant	esv3330384
Chromosome Location	chr3:150553742-150555868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 50 )

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	rs201615498	chr3:150553743-150553744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149453008	chr3:150553788-150553789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143008589	chr3:150553818-150553819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192789213	chr3:150553827-150553828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528946606	chr3:150553833-150553834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542317562	chr3:150553858-150553859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571187178	chr3:150553881-150553882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185230801	chr3:150553882-150553883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369636099	chr3:150553954-150553955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372872636	chr3:150553966-150553967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377127711	chr3:150553973-150553974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148278376	chr3:150553974-150553975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141298549	chr3:150554019-150554020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539433832	chr3:150554023-150554024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556105247	chr3:150554033-150554034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112778229	chr3:150554066-150554067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193179318	chr3:150554091-150554092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146245905	chr3:150554094-150554095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572589763	chr3:150554105-150554106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372974576	chr3:150554215-150554216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576816878	chr3:150554220-150554221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535052719	chr3:150554269-150554270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185421905	chr3:150554310-150554311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577745813	chr3:150554314-150554315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543455154	chr3:150554348-150554349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113765982	chr3:150554367-150554368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563243587	chr3:150554410-150554411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139296153	chr3:150554421-150554422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542701166	chr3:150554496-150554497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368986373	chr3:150554599-150554600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544346151	chr3:150554674-150554675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528269731	chr3:150554744-150554745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146085290	chr3:150554785-150554786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189506879	chr3:150554803-150554804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571999400	chr3:150554813-150554814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139711291	chr3:150554829-150554830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372474185	chr3:150554908-150554909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549767740	chr3:150554945-150554946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569992011	chr3:150554952-150554953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4259005	chr3:150554959-150554960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562597328	chr3:150554977-150554978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145695601	chr3:150554985-150554986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566169854	chr3:150554988-150554989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535213104	chr3:150554998-150554999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533575229	chr3:150555121-150555122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148587260	chr3:150555127-150555128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371016301	chr3:150555141-150555142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537692009	chr3:150555266-150555267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556724802	chr3:150555268-150555269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375355476	chr3:150555273-150555274	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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150550600-150556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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