Variant report

Variant	esv3436329
Chromosome Location	chr3:120936612-120937860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572921261	chr3:120936735-120936736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186839686	chr3:120936739-120936740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557087792	chr3:120936745-120936746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574864278	chr3:120936795-120936796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544104084	chr3:120936839-120936840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549316123	chr3:120936856-120936857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78509932	chr3:120936881-120936882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560808999	chr3:120936894-120936895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs787851	chr3:120936915-120936916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571664182	chr3:120936965-120936966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567509349	chr3:120936993-120936994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191253085	chr3:120937016-120937017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs338977	chr3:120937024-120937025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560069259	chr3:120937026-120937027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs338976	chr3:120937032-120937033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569653890	chr3:120937034-120937035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112946650	chr3:120937045-120937046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182999719	chr3:120937070-120937071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572048573	chr3:120937153-120937154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61013370	chr3:120937173-120937174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59854383	chr3:120937174-120937175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61543684	chr3:120937179-120937180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61239046	chr3:120937182-120937183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12634909	chr3:120937186-120937187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12637426	chr3:120937187-120937188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59031352	chr3:120937193-120937194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559699963	chr3:120937308-120937309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76553558	chr3:120937330-120937331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373399354	chr3:120937338-120937339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73191437	chr3:120937343-120937344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs202128204	chr3:120937385-120937386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187179265	chr3:120937459-120937460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548911126	chr3:120937499-120937500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568815424	chr3:120937626-120937627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116703531	chr3:120937659-120937660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554376883	chr3:120937679-120937680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570921384	chr3:120937681-120937682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528407070	chr3:120937687-120937688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376763489	chr3:120937690-120937691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558320834	chr3:120937710-120937711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs173087	chr3:120937769-120937770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373388170	chr3:120937795-120937796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191235503	chr3:120937821-120937822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13064667	chr3:120937831-120937832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554141217	chr3:120937850-120937851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120936400-120955800	Weak transcription	Ovary	ovary

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