Variant report

Variant	esv3385218
Chromosome Location	chr3:102744612-102746910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569199309	chr3:102744618-102744619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547740800	chr3:102744619-102744620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148514058	chr3:102744629-102744630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369321516	chr3:102744639-102744640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566736962	chr3:102744656-102744657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527700649	chr3:102744690-102744691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549182060	chr3:102744722-102744723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567765834	chr3:102744772-102744773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183006433	chr3:102744816-102744817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556787729	chr3:102744850-102744851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188019463	chr3:102744873-102744874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142853901	chr3:102744876-102744877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554460656	chr3:102744925-102744926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571915754	chr3:102744963-102744964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536245134	chr3:102744964-102744965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553349105	chr3:102745004-102745005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192823494	chr3:102745009-102745010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114046319	chr3:102745045-102745046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574760165	chr3:102745053-102745054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201218988	chr3:102745095-102745096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543158340	chr3:102745096-102745097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564715329	chr3:102745117-102745118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576662749	chr3:102745119-102745120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9812153	chr3:102745170-102745171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373771290	chr3:102745179-102745180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530068965	chr3:102745227-102745228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182661220	chr3:102745239-102745240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9812325	chr3:102745265-102745266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187745714	chr3:102745320-102745321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531841293	chr3:102745396-102745397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550328192	chr3:102745418-102745419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571832891	chr3:102745463-102745464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565914954	chr3:102745465-102745466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151072939	chr3:102745503-102745504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2398831	chr3:102745509-102745510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142518845	chr3:102745522-102745523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571247049	chr3:102745552-102745553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191226938	chr3:102745681-102745682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536584240	chr3:102745713-102745714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533723429	chr3:102745721-102745722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146870741	chr3:102745752-102745753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9832428	chr3:102745754-102745755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558246597	chr3:102745762-102745763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374578104	chr3:102745803-102745804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115830837	chr3:102745856-102745857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73848394	chr3:102745910-102745911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545592246	chr3:102745925-102745926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559345356	chr3:102745947-102745948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374726091	chr3:102745955-102745956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76668980	chr3:102745968-102745969	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102743200-102745000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:102744600-102746800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:102745000-102746600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:102746000-102746600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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