Variant report

Variant	esv3391166
Chromosome Location	chr3:120665311-120730822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1481 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1481 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182917762	chr3:120679207-120679208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569503969	chr3:120679240-120679241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147707277	chr3:120679242-120679243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557138562	chr3:120679249-120679250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573629878	chr3:120679252-120679253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570986492	chr3:120679261-120679262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188815641	chr3:120679265-120679266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547359371	chr3:120679276-120679277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148748912	chr3:120679289-120679290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142306664	chr3:120679307-120679308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9833801	chr3:120679333-120679334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564729440	chr3:120679337-120679338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530664727	chr3:120679377-120679378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544253767	chr3:120679387-120679388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561056703	chr3:120679402-120679403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140445750	chr3:120679418-120679419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192912318	chr3:120679448-120679449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566784127	chr3:120679460-120679461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532822806	chr3:120679501-120679502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552633035	chr3:120679523-120679524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144925781	chr3:120679524-120679525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538442564	chr3:120679525-120679526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146760050	chr3:120679526-120679527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184203209	chr3:120679541-120679542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535844644	chr3:120679551-120679552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9872110	chr3:120679554-120679555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572792531	chr3:120679600-120679601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538921922	chr3:120679614-120679615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189386701	chr3:120679620-120679621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145476321	chr3:120679621-120679622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368764363	chr3:120679648-120679649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572487754	chr3:120679662-120679663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561021511	chr3:120679705-120679706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201421189	chr3:120679709-120679710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200355679	chr3:120679713-120679714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574856794	chr3:120679716-120679717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138016472	chr3:120679731-120679732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200429145	chr3:120679756-120679757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75231525	chr3:120679757-120679758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374165315	chr3:120679778-120679779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574696247	chr3:120679808-120679809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552791583	chr3:120679821-120679822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543808718	chr3:120679827-120679828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532445074	chr3:120679857-120679858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61797910	chr3:120679871-120679872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149493255	chr3:120679915-120679916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532689721	chr3:120679926-120679927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111961427	chr3:120679930-120679931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545971609	chr3:120679959-120679960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77806511	chr3:120679966-120679967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Recurrent pregnancy loss	19789632	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120679200-120681600	Weak transcription	Brain Angular Gyrus	brain
2	chr3:120685400-120686200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr3:120685600-120686200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:120689600-120691400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr3:120697800-120698800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:120698200-120698800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
7	chr3:120698800-120702200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:120700600-120701600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr3:120701200-120702000	Enhancers	Gastric	stomach
10	chr3:120701200-120703000	ZNF genes & repeats	Ovary	ovary
11	chr3:120701400-120702800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:120701400-120702800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:120702000-120702400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:120702000-120702600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:120702200-120703200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:120702200-120703200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:120702600-120703000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:120702600-120703200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:120703000-120703400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:120703000-120705000	Weak transcription	Ovary	ovary
21	chr3:120713600-120714400	Weak transcription	Ovary	ovary
22	chr3:120718400-120718800	Weak transcription	Ovary	ovary
23	chr3:120719600-120720600	ZNF genes & repeats	Ovary	ovary
24	chr3:120720600-120737800	Weak transcription	Ovary	ovary

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