Variant report

Variant	nsv963250
Chromosome Location	chr3:19792673-19807214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:
2	chr3:19801295..19803442-chr3:19807030..19809544,2	K562	blood:

Extended variants
information (count: 253 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545980687	chr3:19799006-19799007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540884880	chr3:19799016-19799017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111723475	chr3:19799034-19799035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113147285	chr3:19799060-19799061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141086203	chr3:19799110-19799111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574671739	chr3:19799115-19799116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542104841	chr3:19799161-19799162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528463147	chr3:19799186-19799187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73184828	chr3:19799187-19799188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146016784	chr3:19799200-19799201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs67411918	chr3:19799225-19799226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398052634	chr3:19799226-19799227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59479936	chr3:19799228-19799229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78404307	chr3:19799229-19799230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55834721	chr3:19799230-19799231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71055071	chr3:19799242-19799243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28649130	chr3:19799243-19799244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552124496	chr3:19799267-19799268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564254437	chr3:19799280-19799281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116378977	chr3:19799289-19799290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4858093	chr3:19799290-19799291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs144946805	chr3:19799311-19799312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182813961	chr3:19799352-19799353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551268415	chr3:19799353-19799354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75549260	chr3:19799378-19799379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568378972	chr3:19799391-19799392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187503328	chr3:19799414-19799415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558556082	chr3:19799421-19799422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151313514	chr3:19799447-19799448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569059324	chr3:19799482-19799483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11706482	chr3:19799545-19799546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs373851764	chr3:19799567-19799568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548245161	chr3:19799624-19799625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552939614	chr3:19799641-19799642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112526171	chr3:19799673-19799674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140554872	chr3:19799678-19799679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73184830	chr3:19799784-19799785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556858311	chr3:19799806-19799807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570953963	chr3:19799838-19799839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575159730	chr3:19799843-19799844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73184831	chr3:19799881-19799882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564115024	chr3:19799886-19799887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34895572	chr3:19799909-19799910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10532318	chr3:19799919-19799920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398062134	chr3:19799921-19799922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78274018	chr3:19799945-19799946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561997785	chr3:19799964-19799965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529496022	chr3:19799966-19799967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35889545	chr3:19799977-19799978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565232075	chr3:19799991-19799992	Weak transcription	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19799000-19799600	Enhancers	Brain Hippocampus Middle	brain
2	chr3:19799200-19799600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:19799200-19799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:19799400-19799800	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:19799800-19804000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:19802800-19803000	ZNF genes & repeats	Aorta	Aorta
7	chr3:19804800-19805000	Enhancers	Fetal Intestine Large	intestine
8	chr3:19805000-19805600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:19805600-19806400	Enhancers	Fetal Intestine Large	intestine
10	chr3:19805800-19806400	Enhancers	Fetal Intestine Small	intestine
11	chr3:19806400-19806800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:19806400-19806800	Weak transcription	Fetal Intestine Small	intestine
13	chr3:19806800-19808200	Enhancers	Fetal Intestine Large	intestine
14	chr3:19806800-19808200	Enhancers	Fetal Intestine Small	intestine

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