Variant report

Variant	nsv963518
Chromosome Location	chr3:70219090-70221705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MITF-3	chr3:70221448-70221713	XLOC_002697

Extended variants
information (count: 21 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372922749	chr3:70220285-70220286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554472556	chr3:70220304-70220305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143618078	chr3:70220379-70220380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150152723	chr3:70220409-70220410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547098680	chr3:70220468-70220469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567118759	chr3:70220522-70220523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538971698	chr3:70220523-70220524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6773726	chr3:70220537-70220538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34713123	chr3:70220572-70220573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575957377	chr3:70220577-70220578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552883142	chr3:70221465-70221466	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs149326503	chr3:70221520-70221521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200866820	chr3:70221537-70221538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569546512	chr3:70221566-70221567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs532061356	chr3:70221569-70221570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs548725658	chr3:70221604-70221605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs4129735	chr3:70221610-70221611	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7430641	chr3:70221637-70221638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs534289070	chr3:70221660-70221661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs554005347	chr3:70221682-70221683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs570488759	chr3:70221689-70221690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70220200-70220600	Enhancers	Fetal Brain Male	brain

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