Variant report

Variant	nsv524030
Chromosome Location	chr3:25450943-25453181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6550974	chr3:25450943-25450944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185092803	chr3:25450945-25450946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80329684	chr3:25450946-25450947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536221941	chr3:25450967-25450968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370972046	chr3:25450972-25450973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116690281	chr3:25450984-25450985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569718818	chr3:25450990-25450991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538833320	chr3:25450998-25450999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7630496	chr3:25451000-25451001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7630502	chr3:25451024-25451025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11716604	chr3:25451031-25451032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554576678	chr3:25451063-25451064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189944437	chr3:25451064-25451065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543366788	chr3:25451070-25451071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7620529	chr3:25451077-25451078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193027220	chr3:25451084-25451085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546426604	chr3:25451116-25451117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559673165	chr3:25451130-25451131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185181906	chr3:25451186-25451187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548917227	chr3:25451245-25451246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2364117	chr3:25451254-25451255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189731735	chr3:25451278-25451279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569283152	chr3:25451280-25451281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549753757	chr3:25451285-25451286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569769760	chr3:25451305-25451306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538351675	chr3:25451311-25451312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529472879	chr3:25451338-25451339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548004784	chr3:25451359-25451360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538979827	chr3:25451379-25451380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558745070	chr3:25451382-25451383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565720731	chr3:25451435-25451436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534781221	chr3:25451457-25451458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2364118	chr3:25451461-25451462	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376030601	chr3:25451567-25451568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145626364	chr3:25451569-25451570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138263137	chr3:25451570-25451571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577298898	chr3:25451604-25451605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116095089	chr3:25451625-25451626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559765338	chr3:25451658-25451659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181333910	chr3:25451659-25451660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185018674	chr3:25451671-25451672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572555226	chr3:25451706-25451707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141417002	chr3:25451707-25451708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143395692	chr3:25451709-25451710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148343786	chr3:25451809-25451810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141530427	chr3:25451810-25451811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114781160	chr3:25451826-25451827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555144508	chr3:25451841-25451842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188269265	chr3:25451861-25451862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150887641	chr3:25451863-25451864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Tracheal agenesis	20877625	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioblastoma multiforme	21510904	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25449800-25451600	Weak transcription	Fetal Intestine Small	intestine
2	chr3:25450200-25451600	Weak transcription	Stomach Mucosa	stomach
3	chr3:25451400-25454400	Enhancers	Fetal Intestine Large	intestine
4	chr3:25451600-25451800	Enhancers	Fetal Kidney	kidney
5	chr3:25451600-25453400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:25451600-25454200	Enhancers	Stomach Mucosa	stomach
7	chr3:25451600-25454400	Enhancers	Fetal Intestine Small	intestine
8	chr3:25451800-25453000	Weak transcription	Fetal Kidney	kidney
9	chr3:25451800-25453600	Enhancers	A549	lung
10	chr3:25451800-25454000	Enhancers	HepG2	liver
11	chr3:25452200-25453400	Enhancers	Placenta	Placenta
12	chr3:25452200-25453600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:25452200-25453600	Enhancers	Duodenum Mucosa	Duodenum
14	chr3:25452600-25454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:25453000-25453200	Enhancers	Fetal Kidney	kidney
16	chr3:25453000-25453400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:25453000-25453400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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