Variant report

Variant	nsv516109
Chromosome Location	chr18:27803220-27862545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:9828268..9829021-chr18:27841362..27842179,2	MCF-7	breast:
2	chr18:26541338..26542269-chr18:27860669..27861347,3	MCF-7	breast:
3	chr18:27660806..27661537-chr18:27860581..27861275,2	MCF-7	breast:
4	chr18:27472686..27473345-chr18:27860467..27861458,2	MCF-7	breast:
5	chr18:27454290..27455070-chr18:27860612..27861475,2	MCF-7	breast:
6	chr18:27735365..27737752-chr18:27851643..27854049,2	K562	blood:

Extended variants
information (count: 340 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142559126	chr18:27838916-27838917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545750366	chr18:27838927-27838928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375618702	chr18:27838940-27838941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563264327	chr18:27838986-27838987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575357115	chr18:27838993-27838994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144822521	chr18:27839048-27839049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148248883	chr18:27839072-27839073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528202997	chr18:27839119-27839120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372079442	chr18:27839195-27839196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372300459	chr18:27839200-27839201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376068864	chr18:27839232-27839233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72917539	chr18:27839278-27839279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141298615	chr18:27839280-27839281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200060811	chr18:27839399-27839400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2949523	chr18:27839405-27839406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537003217	chr18:27839434-27839435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549368606	chr18:27839442-27839443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567619848	chr18:27839477-27839478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535141212	chr18:27839495-27839496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150803449	chr18:27839502-27839503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563628171	chr18:27839529-27839530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72917540	chr18:27839537-27839538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2949522	chr18:27839606-27839607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567286623	chr18:27839618-27839619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557640288	chr18:27839627-27839628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386802024	chr18:27839647-27839648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200899793	chr18:27839649-27839650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542222980	chr18:27839659-27839660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560957512	chr18:27839669-27839670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375944651	chr18:27839701-27839702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572827261	chr18:27839738-27839739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540360799	chr18:27839838-27839839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115703251	chr18:27839855-27839856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117252697	chr18:27839883-27839884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72917543	chr18:27839885-27839886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139673508	chr18:27839902-27839903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186923588	chr18:27839920-27839921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34641465	chr18:27839986-27839987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143034531	chr18:27840021-27840022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191757781	chr18:27840064-27840065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557240692	chr18:27840126-27840127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547119249	chr18:27840153-27840154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571771550	chr18:27840172-27840173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539194723	chr18:27840181-27840182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569036178	chr18:27840194-27840195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569542521	chr18:27840230-27840231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147477206	chr18:27840257-27840258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140025077	chr18:27840259-27840260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28473144	chr18:27840335-27840336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183595072	chr18:27840359-27840360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27838800-27839000	Enhancers	Gastric	stomach
2	chr18:27839000-27842600	Weak transcription	Gastric	stomach
3	chr18:27845000-27845600	Enhancers	Fetal Lung	lung
4	chr18:27854000-27854400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:27857400-27858000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:27857600-27858200	Enhancers	Fetal Lung	lung
7	chr18:27858200-27859400	Weak transcription	Fetal Lung	lung
8	chr18:27859400-27860000	Enhancers	Fetal Lung	lung
9	chr18:27860200-27861800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr18:27860800-27861400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr18:27860800-27861600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:27861200-27861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:27861200-27861400	Enhancers	Brain Substantia Nigra	brain

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