Variant report

Variant	nsv515699
Chromosome Location	chr3:22631593-22640648
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	chr20:52236011..52236894-chr3:22635315..22635889,2	MCF-7	breast:

Extended variants
information (count: 278 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:278 , 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	rs377639649	chr3:22635028-22635029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543593184	chr3:22635051-22635052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556578150	chr3:22635094-22635095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13085456	chr3:22635096-22635097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180768303	chr3:22635117-22635118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553319642	chr3:22635122-22635123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541866677	chr3:22635132-22635133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571831274	chr3:22635148-22635149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144331996	chr3:22635166-22635167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561172535	chr3:22635167-22635168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576148879	chr3:22635198-22635199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543745879	chr3:22635236-22635237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74343770	chr3:22635239-22635240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75162292	chr3:22635257-22635258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147789558	chr3:22635280-22635281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4858420	chr3:22635282-22635283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570599012	chr3:22635302-22635303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527811528	chr3:22635312-22635313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568502875	chr3:22635338-22635339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141345614	chr3:22635352-22635353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34942625	chr3:22635380-22635381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567887466	chr3:22635420-22635421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67756583	chr3:22635435-22635436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552346483	chr3:22635440-22635441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555861935	chr3:22635465-22635466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78429467	chr3:22635485-22635486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538920972	chr3:22635489-22635490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553380706	chr3:22635507-22635508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116753581	chr3:22635521-22635522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9851085	chr3:22635551-22635552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1579988	chr3:22635581-22635582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185709510	chr3:22635586-22635587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190080733	chr3:22635594-22635595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140731144	chr3:22635697-22635698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34256027	chr3:22635707-22635708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77774972	chr3:22635710-22635711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143527122	chr3:22635751-22635752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548510069	chr3:22635758-22635759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183600223	chr3:22635803-22635804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527674492	chr3:22635806-22635807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556410434	chr3:22635818-22635819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542963127	chr3:22635859-22635860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150983256	chr3:22635937-22635938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35986413	chr3:22635957-22635958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368091197	chr3:22635990-22635991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531800514	chr3:22636031-22636032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35100704	chr3:22636049-22636050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550132593	chr3:22636057-22636058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188647459	chr3:22636060-22636061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532701975	chr3:22636076-22636077	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22635000-22636600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:22636000-22636200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:22636200-22648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:22638600-22639200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:22638600-22639200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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