Variant report

Variant	nsv966993
Chromosome Location	chr3:17911152-17913937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17901420..17905506-chr3:17906553..17911156,6	K562	blood:
2	chr3:17909020..17912909-chr3:17926359..17928346,3	K562	blood:
3	chr3:17909966..17912516-chr3:17914801..17916339,2	K562	blood:
4	chr3:17886187..17888501-chr3:17910971..17912809,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545873294	chr3:17911153-17911154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75516376	chr3:17911185-17911186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557367519	chr3:17911186-17911187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377029325	chr3:17911205-17911206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574063088	chr3:17911248-17911249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543144676	chr3:17911314-17911315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553183255	chr3:17911331-17911332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573040718	chr3:17911346-17911347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544830635	chr3:17911368-17911369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533567431	chr3:17911371-17911372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553088311	chr3:17911387-17911388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547341355	chr3:17911388-17911389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530682683	chr3:17911401-17911402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149392454	chr3:17911463-17911464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560583413	chr3:17911488-17911489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529631104	chr3:17911525-17911526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546720794	chr3:17911526-17911527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566396813	chr3:17911527-17911528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12489702	chr3:17911539-17911540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551645873	chr3:17911545-17911546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117886126	chr3:17911602-17911603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12489764	chr3:17911614-17911615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557673341	chr3:17911664-17911665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73160124	chr3:17911776-17911777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1864591	chr3:17911823-17911824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553437248	chr3:17911828-17911829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144733440	chr3:17911857-17911858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111245348	chr3:17911861-17911862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10710297	chr3:17911862-17911863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573217099	chr3:17911887-17911888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140025053	chr3:17911904-17911905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558358740	chr3:17911935-17911936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575079406	chr3:17911953-17911954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572273338	chr3:17912001-17912002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544139816	chr3:17912022-17912023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560845219	chr3:17912046-17912047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529642694	chr3:17912055-17912056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539803831	chr3:17912061-17912062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560206126	chr3:17912067-17912068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2116097	chr3:17912087-17912088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147253586	chr3:17912101-17912102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565515944	chr3:17912124-17912125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140687347	chr3:17912144-17912145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551344960	chr3:17912146-17912147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375717476	chr3:17912163-17912164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67712814	chr3:17912181-17912182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574871710	chr3:17912191-17912192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142229736	chr3:17912237-17912238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546644587	chr3:17912251-17912252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372593400	chr3:17912279-17912280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17903400-17913600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:17904200-17936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:17913600-17913800	Enhancers	H9 Cell Line	embryonic stem cell

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