Variant report

Variant	nsv1002321
Chromosome Location	chr3:80580862-80606823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 355 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144948597	chr3:80582205-80582206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530813600	chr3:80582217-80582218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568440958	chr3:80582250-80582251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527708839	chr3:80582254-80582255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539565395	chr3:80582255-80582256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148627036	chr3:80582258-80582259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547354786	chr3:80582301-80582302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528221846	chr3:80582318-80582319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367812316	chr3:80582336-80582337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536085126	chr3:80582350-80582351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185305939	chr3:80582361-80582362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2372657	chr3:80582413-80582414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143256672	chr3:80582443-80582444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2372656	chr3:80582446-80582447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368668876	chr3:80582693-80582694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189771758	chr3:80582775-80582776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539929704	chr3:80582804-80582805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182698701	chr3:80582863-80582864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553868415	chr3:80582894-80582895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573746855	chr3:80582899-80582900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542856785	chr3:80582951-80582952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562398849	chr3:80582975-80582976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1320909	chr3:80582981-80582982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs199849663	chr3:80583039-80583040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544168649	chr3:80583041-80583042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187525006	chr3:80583049-80583050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533395133	chr3:80583133-80583134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115665310	chr3:80583218-80583219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567000724	chr3:80583241-80583242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529419619	chr3:80583251-80583252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34780022	chr3:80583285-80583286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202225248	chr3:80583286-80583287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549607151	chr3:80583296-80583297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397721064	chr3:80583300-80583301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569538491	chr3:80583360-80583361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375609124	chr3:80583361-80583362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111803220	chr3:80583387-80583388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558517917	chr3:80583429-80583430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571248028	chr3:80583430-80583431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28578928	chr3:80583434-80583435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553584297	chr3:80583441-80583442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573686281	chr3:80583446-80583447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368211555	chr3:80583459-80583460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140328022	chr3:80583460-80583461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145595182	chr3:80583477-80583478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151003344	chr3:80583511-80583512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193288691	chr3:80583564-80583565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533169186	chr3:80583573-80583574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540625462	chr3:80583583-80583584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375439166	chr3:80583584-80583585	Enhancers	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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80582200-80583800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:80582400-80583200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:80582400-80583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:80582400-80583400	Enhancers	NHEK	skin
5	chr3:80589200-80589600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:80589400-80589800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:80589400-80589800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:80591600-80591800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:80598000-80598200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:80598200-80598400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:80598200-80599800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:80598400-80599400	Enhancers	NHEK	skin
13	chr3:80598400-80605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:80599400-80599800	Enhancers	Colon Smooth Muscle	Colon
15	chr3:80599400-80606000	Weak transcription	NHEK	skin
16	chr3:80599800-80602000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:80601000-80601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:80601200-80601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:80602000-80603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:80603800-80605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:80605200-80605400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:80605200-80606400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:80605400-80605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:80605400-80606400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:80605800-80606400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:80606000-80606400	Enhancers	Fetal Intestine Small	intestine
27	chr3:80606000-80606400	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links