Variant report

Variant	esv2557637
Chromosome Location	chr3:120735100-120736495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556559823	chr3:120735101-120735102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562630876	chr3:120735138-120735139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531190756	chr3:120735145-120735146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73187415	chr3:120735205-120735206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547748541	chr3:120735209-120735210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567737442	chr3:120735210-120735211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182984245	chr3:120735211-120735212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547297076	chr3:120735263-120735264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9861282	chr3:120735271-120735272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1403722	chr3:120735332-120735333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556370491	chr3:120735341-120735342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6148046	chr3:120735372-120735373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34649870	chr3:120735400-120735401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145127386	chr3:120735450-120735451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188076353	chr3:120735465-120735466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555752859	chr3:120735470-120735471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572480491	chr3:120735483-120735484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541737492	chr3:120735506-120735507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558474488	chr3:120735507-120735508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75461730	chr3:120735528-120735529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376209278	chr3:120735601-120735602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544027374	chr3:120735606-120735607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563745248	chr3:120735645-120735646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377066465	chr3:120735665-120735666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7432759	chr3:120735714-120735715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531405326	chr3:120735724-120735725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541525187	chr3:120735781-120735782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191613387	chr3:120735788-120735789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182760906	chr3:120735813-120735814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140636485	chr3:120735822-120735823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539949836	chr3:120735824-120735825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187834370	chr3:120735905-120735906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570761711	chr3:120735941-120735942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533093225	chr3:120735952-120735953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370079804	chr3:120735957-120735958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567907119	chr3:120735969-120735970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560134679	chr3:120735983-120735984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9828540	chr3:120736000-120736001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569754439	chr3:120736012-120736013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535911941	chr3:120736018-120736019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555938642	chr3:120736028-120736029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566077124	chr3:120736035-120736036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369668964	chr3:120736038-120736039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549286703	chr3:120736041-120736042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535044651	chr3:120736129-120736130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192402363	chr3:120736141-120736142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578170716	chr3:120736320-120736321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144660662	chr3:120736351-120736352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376320662	chr3:120736390-120736391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543780275	chr3:120736397-120736398	Weak transcription	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
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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120720600-120737800	Weak transcription	Ovary	ovary

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