Variant report

Variant	nsv979810
Chromosome Location	chr3:21531553-21532919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548874657	chr3:21531630-21531631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545895742	chr3:21531650-21531651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs504335	chr3:21531760-21531761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572168823	chr3:21531766-21531767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537776952	chr3:21531815-21531816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185938179	chr3:21531816-21531817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138451662	chr3:21531847-21531848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541247207	chr3:21531852-21531853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561008865	chr3:21531879-21531880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534797944	chr3:21531880-21531881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61228100	chr3:21531890-21531891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6793355	chr3:21531908-21531909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530054334	chr3:21531909-21531910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574695880	chr3:21531961-21531962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541840873	chr3:21531970-21531971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148865882	chr3:21531972-21531973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575912822	chr3:21531982-21531983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143558691	chr3:21532044-21532045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564924774	chr3:21532059-21532060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138101267	chr3:21532077-21532078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532348324	chr3:21532135-21532136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547133323	chr3:21532173-21532174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538756720	chr3:21532176-21532177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372717115	chr3:21532219-21532220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375984136	chr3:21532238-21532239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11707385	chr3:21532243-21532244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3965317	chr3:21532264-21532265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569698874	chr3:21532298-21532299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537738179	chr3:21532299-21532300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563274508	chr3:21532321-21532322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373709657	chr3:21532338-21532339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367759815	chr3:21532378-21532379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570915144	chr3:21532475-21532476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535222621	chr3:21532479-21532480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553162771	chr3:21532481-21532482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574605331	chr3:21532646-21532647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5847104	chr3:21532708-21532709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397789133	chr3:21532717-21532718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62235557	chr3:21532720-21532721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138812078	chr3:21532822-21532823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532202658	chr3:21532823-21532824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575279222	chr3:21532858-21532859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141960494	chr3:21532918-21532919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21515800-21563000	Weak transcription	Fetal Stomach	stomach
2	chr3:21519800-21549000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:21524000-21537000	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21526200-21559000	Weak transcription	Aorta	Aorta
5	chr3:21529400-21531600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:21531600-21532000	Enhancers	Pancreatic Islets	Pancreatic Islet

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