Variant report

Variant	esv3333771
Chromosome Location	chr3:120789095-120798225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 505 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572164966	chr3:120789100-120789101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541126708	chr3:120789106-120789107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564298244	chr3:120789111-120789112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533380734	chr3:120789153-120789154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148458707	chr3:120789162-120789163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111542653	chr3:120789164-120789165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142592787	chr3:120789186-120789187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549639777	chr3:120789202-120789203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566287022	chr3:120789205-120789206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184409397	chr3:120789209-120789210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547530357	chr3:120789222-120789223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150963551	chr3:120789238-120789239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558090313	chr3:120789260-120789261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539446667	chr3:120789271-120789272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35752750	chr3:120789272-120789273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3845849	chr3:120789300-120789301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569973200	chr3:120789310-120789311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3845850	chr3:120789320-120789321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7642185	chr3:120789323-120789324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571934965	chr3:120789339-120789340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541095607	chr3:120789347-120789348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554070795	chr3:120789359-120789360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573766601	chr3:120789406-120789407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577937987	chr3:120789415-120789416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189766393	chr3:120789461-120789462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542762830	chr3:120789505-120789506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563819820	chr3:120789527-120789528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114089649	chr3:120789563-120789564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372393156	chr3:120789570-120789571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112391203	chr3:120789582-120789583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377011861	chr3:120789584-120789585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140759274	chr3:120789585-120789586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542781274	chr3:120789604-120789605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547153687	chr3:120789621-120789622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181370361	chr3:120789628-120789629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3845851	chr3:120789636-120789637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549707629	chr3:120789656-120789657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569550493	chr3:120789662-120789663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56217411	chr3:120789667-120789668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555261528	chr3:120789696-120789697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185286792	chr3:120789747-120789748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534537827	chr3:120789771-120789772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545084691	chr3:120789774-120789775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557969902	chr3:120789776-120789777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578079791	chr3:120789845-120789846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190544016	chr3:120789886-120789887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181434420	chr3:120789911-120789912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186376531	chr3:120789930-120789931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377023712	chr3:120789967-120789968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543328643	chr3:120789969-120789970	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120769000-120791200	Weak transcription	Ovary	ovary
2	chr3:120781600-120790800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:120783000-120789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:120789400-120789600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:120789600-120790200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:120790200-120790400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:120790200-120790800	Enhancers	Aorta	Aorta
8	chr3:120790200-120791400	Enhancers	Placenta	Placenta
9	chr3:120790400-120792600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:120790800-120791000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr3:120790800-120791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:120791000-120791400	Enhancers	Brain Angular Gyrus	brain
13	chr3:120791000-120791600	Enhancers	Adipose Nuclei	Adipose
14	chr3:120791000-120798600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:120791200-120791400	Enhancers	Ovary	ovary
16	chr3:120791200-120791600	Enhancers	Fetal Lung	lung
17	chr3:120791200-120792000	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:120792600-120792800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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