Variant report

Variant	nsv590432
Chromosome Location	chr3:61416169-61425165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553988621	chr3:61416194-61416195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73837547	chr3:61416198-61416199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547051627	chr3:61416223-61416224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184289615	chr3:61416266-61416267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73837548	chr3:61416340-61416341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370228252	chr3:61416349-61416350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576504602	chr3:61416360-61416361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6780914	chr3:61416381-61416382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562732384	chr3:61416398-61416399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575112255	chr3:61423843-61423844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557856081	chr3:61423853-61423854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576084054	chr3:61423869-61423870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187372047	chr3:61423878-61423879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555116920	chr3:61423879-61423880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190740230	chr3:61423887-61423888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115293931	chr3:61423896-61423897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182899498	chr3:61423906-61423907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541756149	chr3:61423908-61423909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138775625	chr3:61423958-61423959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201715981	chr3:61423979-61423980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578231094	chr3:61424011-61424012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141343936	chr3:61424102-61424103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560979710	chr3:61424141-61424142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529544336	chr3:61424149-61424150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545648291	chr3:61424153-61424154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185759294	chr3:61424277-61424278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530945000	chr3:61424299-61424300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190167274	chr3:61424319-61424320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541772579	chr3:61424346-61424347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561126650	chr3:61424355-61424356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113836841	chr3:61424399-61424400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147000757	chr3:61424404-61424405	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533580793	chr3:61424418-61424419	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80327213	chr3:61424439-61424440	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551857231	chr3:61424449-61424450	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78813351	chr3:61424468-61424469	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397989839	chr3:61424470-61424471	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141803171	chr3:61424497-61424498	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551328863	chr3:61424543-61424544	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531078534	chr3:61424554-61424555	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569830702	chr3:61424597-61424598	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536752225	chr3:61424613-61424614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555401683	chr3:61424646-61424647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56752710	chr3:61424686-61424687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534574778	chr3:61424704-61424705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552985308	chr3:61424769-61424770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183225722	chr3:61424775-61424776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187701563	chr3:61424777-61424778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192712790	chr3:61424784-61424785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557315523	chr3:61424813-61424814	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	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
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61411200-61416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:61416000-61416200	Enhancers	Fetal Muscle Leg	muscle
3	chr3:61423800-61425400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:61424000-61424400	Enhancers	Liver	Liver
5	chr3:61424000-61425200	Enhancers	Fetal Intestine Small	intestine
6	chr3:61424000-61425400	Enhancers	Fetal Lung	lung
7	chr3:61424000-61425400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:61424400-61424600	Flanking Active TSS	Liver	Liver
9	chr3:61424400-61424800	Enhancers	Fetal Heart	heart
10	chr3:61424600-61424800	Enhancers	Liver	Liver
11	chr3:61424600-61425000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:61424800-61425000	Flanking Active TSS	Liver	Liver
13	chr3:61424800-61425400	Enhancers	Psoas Muscle	Psoas
14	chr3:61425000-61425400	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links