Variant report

Variant	nsv967248
Chromosome Location	chr3:19668793-19673736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142445178	chr3:19672408-19672409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554406352	chr3:19672425-19672426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189847003	chr3:19672470-19672471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543278206	chr3:19672500-19672501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558805885	chr3:19672516-19672517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6787710	chr3:19672573-19672574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541338377	chr3:19672612-19672613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112890017	chr3:19672649-19672650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559684604	chr3:19672675-19672676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530081597	chr3:19672723-19672724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542192824	chr3:19672724-19672725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563659186	chr3:19672766-19672767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531056303	chr3:19672789-19672790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13071260	chr3:19672807-19672808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13071268	chr3:19672821-19672822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552218619	chr3:19672849-19672850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570719651	chr3:19672860-19672861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528614180	chr3:19672862-19672863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181109738	chr3:19672863-19672864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9857864	chr3:19672864-19672865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535901892	chr3:19672877-19672878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115971877	chr3:19672913-19672914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569519756	chr3:19672928-19672929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62278787	chr3:19672936-19672937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558642404	chr3:19672965-19672966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577157678	chr3:19673082-19673083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145952515	chr3:19673090-19673091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113454462	chr3:19673137-19673138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139799957	chr3:19673189-19673190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574655765	chr3:19673231-19673232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371221488	chr3:19673244-19673245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112496875	chr3:19673293-19673294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115221324	chr3:19673313-19673314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563718187	chr3:19673325-19673326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575508447	chr3:19673378-19673379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545893800	chr3:19673393-19673394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564237825	chr3:19673431-19673432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111379906	chr3:19673482-19673483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528698969	chr3:19673490-19673491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185645723	chr3:19673534-19673535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190451512	chr3:19673550-19673551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550193696	chr3:19673561-19673562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577072461	chr3:19673568-19673569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550954911	chr3:19673617-19673618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569639088	chr3:19673623-19673624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112244748	chr3:19673664-19673665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144543063	chr3:19673677-19673678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545645759	chr3:19673722-19673723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13324034	chr3:19673724-19673725	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19672400-19674400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:19673600-19674200	Enhancers	GM12878-XiMat	blood
3	chr3:19673600-19674400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:19673600-19674800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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