Variant report

Variant	esv3331556
Chromosome Location	chr18:40424054-40427652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574073326	chr18:40424254-40424255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563570364	chr18:40424258-40424259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567491793	chr18:40424261-40424262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191303616	chr18:40424279-40424280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73470098	chr18:40424345-40424346	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577305864	chr18:40424356-40424357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538314584	chr18:40424363-40424364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553608848	chr18:40424369-40424370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571962241	chr18:40424399-40424400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs71352056	chr18:40424433-40424434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549691516	chr18:40424436-40424437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142991388	chr18:40424456-40424457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs34448748	chr18:40424519-40424520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146120589	chr18:40424532-40424533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183794611	chr18:40424551-40424552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139041376	chr18:40424601-40424602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189289618	chr18:40424614-40424615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567963579	chr18:40424623-40424624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544007052	chr18:40424638-40424639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs142201635	chr18:40424639-40424640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs146305455	chr18:40424644-40424645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547839719	chr18:40424709-40424710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559593694	chr18:40424775-40424776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181993268	chr18:40424783-40424784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533789845	chr18:40424808-40424809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548340912	chr18:40424834-40424835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567201881	chr18:40424840-40424841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368123091	chr18:40424886-40424887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534564266	chr18:40424989-40424990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373309910	chr18:40424995-40424996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571084231	chr18:40425002-40425003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148499512	chr18:40425012-40425013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553792409	chr18:40425013-40425014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570579583	chr18:40425059-40425060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572084938	chr18:40425089-40425090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142883485	chr18:40425174-40425175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376443658	chr18:40425207-40425208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73470099	chr18:40425308-40425309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556377052	chr18:40425320-40425321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199852842	chr18:40425339-40425340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34653902	chr18:40425437-40425438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576790386	chr18:40425496-40425497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185091261	chr18:40425498-40425499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559314406	chr18:40425499-40425500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs601707	chr18:40425504-40425505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190296876	chr18:40425515-40425516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181124333	chr18:40425532-40425533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150649071	chr18:40425535-40425536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542190973	chr18:40425588-40425589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186566679	chr18:40425662-40425663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40424200-40424800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:40424800-40434800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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