Variant report

Variant	nsv521709
Chromosome Location	chr18:44995176-45001773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 233 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567012228	chr18:44995417-44995418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374156077	chr18:44995435-44995436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535891174	chr18:44995461-44995462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112043667	chr18:44995466-44995467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142941031	chr18:44995552-44995553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150666286	chr18:44995577-44995578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34237924	chr18:44995595-44995596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139821855	chr18:44995599-44995600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538888974	chr18:44995621-44995622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35245236	chr18:44995625-44995626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573570692	chr18:44995632-44995633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149787977	chr18:44995638-44995639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57550421	chr18:44995649-44995650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146788837	chr18:44995650-44995651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58303507	chr18:44995658-44995659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549622967	chr18:44995717-44995718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563378123	chr18:44995721-44995722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140482348	chr18:44995769-44995770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552346349	chr18:44995771-44995772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565676591	chr18:44995772-44995773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36068518	chr18:44995814-44995815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534613030	chr18:44995827-44995828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144159900	chr18:44995888-44995889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541877767	chr18:44995905-44995906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116098687	chr18:44995914-44995915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558493150	chr18:44995917-44995918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146528688	chr18:44995918-44995919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575432326	chr18:44995938-44995939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539688642	chr18:44995949-44995950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553616175	chr18:44995980-44995981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114790887	chr18:44996011-44996012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377615823	chr18:44996042-44996043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542560238	chr18:44996053-44996054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369544532	chr18:44996057-44996058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562333326	chr18:44996078-44996079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574381601	chr18:44996089-44996090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374087506	chr18:44996106-44996107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72918553	chr18:44996152-44996153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532223332	chr18:44996223-44996224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574942783	chr18:44996245-44996246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7233440	chr18:44996260-44996261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559144517	chr18:44996276-44996277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149105465	chr18:44996434-44996435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548113700	chr18:44996445-44996446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373586574	chr18:44996503-44996504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564954702	chr18:44996566-44996567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143155297	chr18:44996572-44996573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114071214	chr18:44996612-44996613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550946370	chr18:44996698-44996699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570717145	chr18:44996745-44996746	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	21569311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44995400-44997000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr18:44995800-44996000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44996800-44997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:44996800-44998600	Enhancers	Placenta	Placenta
5	chr18:44997200-44998000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:44998000-44998200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:44998200-45001400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:45001400-45001600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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