Variant report

Variant	nsv877018
Chromosome Location	chr3:78420818-78472085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 480 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527888944	chr3:78425029-78425030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55677339	chr3:78425052-78425053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140777183	chr3:78425067-78425068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12714467	chr3:78425105-78425106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34337054	chr3:78425125-78425126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549084678	chr3:78425141-78425142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568886903	chr3:78425150-78425151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537813869	chr3:78425151-78425152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557770930	chr3:78425152-78425153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373173243	chr3:78425171-78425172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571480505	chr3:78425210-78425211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533838431	chr3:78425250-78425251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72894919	chr3:78425328-78425329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573481926	chr3:78425348-78425349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541346463	chr3:78425390-78425391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536360680	chr3:78425457-78425458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78476470	chr3:78425458-78425459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189419367	chr3:78425459-78425460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182251593	chr3:78425489-78425490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545344525	chr3:78425500-78425501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565125028	chr3:78425547-78425548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572743774	chr3:78425576-78425577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541340293	chr3:78425583-78425584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561563751	chr3:78425618-78425619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539426679	chr3:78425623-78425624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147295120	chr3:78425696-78425697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554183620	chr3:78425704-78425705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530284386	chr3:78425724-78425725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567237675	chr3:78425743-78425744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562523491	chr3:78425745-78425746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573518372	chr3:78425751-78425752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541911300	chr3:78425752-78425753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186874762	chr3:78425759-78425760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551399001	chr3:78425768-78425769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528746800	chr3:78439207-78439208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370626365	chr3:78439221-78439222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531942189	chr3:78439268-78439269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs568767221	chr3:78439328-78439329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150393741	chr3:78439341-78439342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550804432	chr3:78439371-78439372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570674292	chr3:78439435-78439436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538353128	chr3:78439439-78439440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558205578	chr3:78439446-78439447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565352169	chr3:78439482-78439483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186301982	chr3:78439501-78439502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559272318	chr3:78439518-78439519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574724626	chr3:78439531-78439532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117644601	chr3:78439535-78439536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557201927	chr3:78439543-78439544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577065224	chr3:78439561-78439562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78425000-78425800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:78425200-78425600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:78439200-78439800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:78439400-78439800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:78439400-78439800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:78448000-78448800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:78448400-78448800	Enhancers	Hela-S3	cervix
8	chr3:78448600-78449200	Enhancers	Fetal Brain Male	brain
9	chr3:78448600-78450600	Enhancers	Fetal Lung	lung
10	chr3:78448800-78449800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:78450400-78451200	Enhancers	Esophagus	oesophagus
12	chr3:78451800-78452600	Enhancers	NHEK	skin
13	chr3:78452000-78452600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:78452600-78455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:78455400-78456000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:78462400-78462600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:78463200-78463400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:78470400-78471400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:78470400-78471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:78470400-78471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:78470400-78471600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:78470600-78472000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:78471000-78472400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:78471400-78472600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links