Variant report

Variant	esv3381316
Chromosome Location	chr3:109737562-109741960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539184265	chr3:109737567-109737568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558902960	chr3:109737642-109737643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181492050	chr3:109737654-109737655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540406329	chr3:109737655-109737656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537296845	chr3:109737714-109737715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142919581	chr3:109737726-109737727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555505283	chr3:109737732-109737733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187653980	chr3:109737752-109737753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540747920	chr3:109737754-109737755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191966961	chr3:109737756-109737757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182218560	chr3:109737768-109737769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186009495	chr3:109737780-109737781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561114929	chr3:109737798-109737799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs775542	chr3:109737802-109737803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189729191	chr3:109737861-109737862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377136122	chr3:109737877-109737878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147810561	chr3:109737893-109737894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532040589	chr3:109737906-109737907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370635206	chr3:109737908-109737909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182774117	chr3:109737942-109737943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9820654	chr3:109737960-109737961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs775543	chr3:109737971-109737972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9858564	chr3:109737997-109737998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544987660	chr3:109738019-109738020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370373182	chr3:109738024-109738025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141207905	chr3:109738026-109738027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187099643	chr3:109738051-109738052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56969107	chr3:109738071-109738072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200728695	chr3:109738072-109738073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550649470	chr3:109738078-109738079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146940179	chr3:109738093-109738094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190795996	chr3:109738102-109738103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183027244	chr3:109738204-109738205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368569089	chr3:109738315-109738316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545947230	chr3:109738322-109738323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559923710	chr3:109738372-109738373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532936366	chr3:109738374-109738375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147566513	chr3:109738384-109738385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116617237	chr3:109738425-109738426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574729530	chr3:109738426-109738427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543604040	chr3:109738441-109738442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140676051	chr3:109738462-109738463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577434195	chr3:109738481-109738482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372338187	chr3:109738502-109738503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545506138	chr3:109738518-109738519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559258168	chr3:109738524-109738525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150167617	chr3:109738564-109738565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201934169	chr3:109738569-109738570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546317625	chr3:109738570-109738571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376692718	chr3:109738635-109738636	Enhancers 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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109735800-109738200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:109735800-109740400	Weak transcription	Aorta	Aorta
3	chr3:109736400-109738600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:109736800-109738200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:109737200-109737600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:109737200-109738000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:109737200-109738000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:109737200-109738400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:109737600-109738600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:109738000-109738200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:109738000-109738600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:109738200-109738400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:109738200-109738600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:109738200-109738600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:109738400-109738600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:109738600-109739000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:109739200-109739600	Enhancers	HSMMtube	muscle

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