Variant report

Variant	nsv829667
Chromosome Location	chr3:109786662-109939671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2452 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2452 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528711015	chr3:109786732-109786733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567488273	chr3:109786761-109786762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536416399	chr3:109786792-109786793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544964574	chr3:109786802-109786803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556375453	chr3:109786930-109786931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576334937	chr3:109786934-109786935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55927799	chr3:109786936-109786937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186430241	chr3:109786975-109786976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558145245	chr3:109786976-109786977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191280119	chr3:109786990-109786991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182678091	chr3:109786993-109786994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540349873	chr3:109786994-109786995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148684895	chr3:109787079-109787080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546909035	chr3:109787103-109787104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529333364	chr3:109787119-109787120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542839907	chr3:109787193-109787194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185354921	chr3:109787218-109787219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142184888	chr3:109787265-109787266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371549971	chr3:109787266-109787267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17666553	chr3:109787278-109787279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571221987	chr3:109787281-109787282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150776007	chr3:109787336-109787337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200713833	chr3:109787383-109787384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538277170	chr3:109787389-109787390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199952425	chr3:109787391-109787392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201016346	chr3:109787392-109787393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62282099	chr3:109787395-109787396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567401872	chr3:109787411-109787412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190849571	chr3:109787441-109787442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371301353	chr3:109787451-109787452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374842473	chr3:109787452-109787453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538930106	chr3:109787454-109787455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370862433	chr3:109787481-109787482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367718387	chr3:109787490-109787491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368304781	chr3:109787538-109787539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577983147	chr3:109787539-109787540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372509045	chr3:109787543-109787544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368138655	chr3:109787554-109787555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542223597	chr3:109787555-109787556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553728913	chr3:109787574-109787575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573842668	chr3:109787631-109787632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542701063	chr3:109787657-109787658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372621859	chr3:109787739-109787740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563106192	chr3:109787908-109787909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112193570	chr3:109787961-109787962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183356339	chr3:109788049-109788050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59858560	chr3:109788072-109788073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531665975	chr3:109788119-109788120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145451957	chr3:109788142-109788143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147682733	chr3:109788149-109788150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109785000-109787000	Enhancers	Fetal Heart	heart
2	chr3:109785600-109787200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:109786600-109787000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:109786600-109787000	Enhancers	HSMMtube	muscle
5	chr3:109786600-109787200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:109786600-109788000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:109786800-109787000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:109787000-109787600	Weak transcription	HSMMtube	muscle
9	chr3:109787000-109788200	Weak transcription	Fetal Heart	heart
10	chr3:109787000-109788400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:109787200-109788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:109788000-109790200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:109788200-109788800	Enhancers	Fetal Heart	heart
14	chr3:109788400-109788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:109788400-109789200	Enhancers	HMEC	breast
16	chr3:109788400-109789800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:109788400-109790400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:109788600-109789400	Enhancers	NH-A	brain
19	chr3:109788600-109790200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:109788800-109789000	Flanking Active TSS	Fetal Heart	heart
21	chr3:109788800-109789000	Enhancers	HSMMtube	muscle
22	chr3:109788800-109789200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:109788800-109790800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:109789000-109789200	Enhancers	Fetal Heart	heart
25	chr3:109789000-109789200	Enhancers	Ovary	ovary
26	chr3:109789000-109789800	Enhancers	Stomach Mucosa	stomach
27	chr3:109789200-109789400	Flanking Active TSS	Fetal Heart	heart
28	chr3:109789400-109789800	Weak transcription	NH-A	brain
29	chr3:109789400-109790200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:109789400-109790600	Enhancers	Fetal Heart	heart
31	chr3:109789800-109790200	Enhancers	NH-A	brain
32	chr3:109790000-109790200	Enhancers	Ovary	ovary
33	chr3:109790000-109790400	Enhancers	Left Ventricle	heart
34	chr3:109790200-109794800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:109790400-109790800	Weak transcription	Left Ventricle	heart
36	chr3:109790600-109791600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr3:109790800-109791400	Enhancers	Left Ventricle	heart
38	chr3:109791000-109791600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr3:109791000-109791600	Enhancers	Lung	lung
40	chr3:109794800-109795600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr3:109803000-109811600	Weak transcription	Aorta	Aorta
42	chr3:109806800-109807200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:109808600-109808800	Enhancers	Stomach Smooth Muscle	stomach
44	chr3:109808800-109809200	Enhancers	Colon Smooth Muscle	Colon
45	chr3:109808800-109809200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr3:109808800-109812200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:109811600-109811800	Enhancers	Aorta	Aorta
48	chr3:109811600-109813600	Enhancers	Fetal Stomach	stomach
49	chr3:109811800-109815400	Weak transcription	Aorta	Aorta
50	chr3:109812200-109813000	Enhancers	Fetal Lung	lung

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