Variant report

Variant	nsv576764
Chromosome Location	chr18:40055737-40057525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189323389	chr18:40055770-40055771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10468964	chr18:40055787-40055788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181718444	chr18:40055820-40055821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577716788	chr18:40055837-40055838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556667443	chr18:40055839-40055840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369327496	chr18:40055911-40055912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562467182	chr18:40055913-40055914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545911266	chr18:40055951-40055952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143303923	chr18:40055958-40055959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573484507	chr18:40055968-40055969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544769816	chr18:40055973-40055974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540779703	chr18:40055986-40055987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562424045	chr18:40055988-40055989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532129459	chr18:40056002-40056003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529548143	chr18:40056053-40056054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373219944	chr18:40056060-40056061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185104806	chr18:40056068-40056069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562945732	chr18:40056096-40056097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562738266	chr18:40056123-40056124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574864205	chr18:40056127-40056128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148324553	chr18:40056151-40056152	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs551469787	chr18:40056189-40056190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566581321	chr18:40056191-40056192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140341613	chr18:40056193-40056194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113621485	chr18:40056200-40056201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77556242	chr18:40056203-40056204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535365254	chr18:40056209-40056210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556962807	chr18:40056224-40056225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373231567	chr18:40056246-40056247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397858517	chr18:40056261-40056262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397858729	chr18:40056263-40056264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568749318	chr18:40056331-40056332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145549998	chr18:40056333-40056334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35331869	chr18:40056334-40056335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570074014	chr18:40056352-40056353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149296079	chr18:40056353-40056354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139528655	chr18:40056354-40056355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200612709	chr18:40056356-40056357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201656465	chr18:40056367-40056368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539397183	chr18:40056392-40056393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557887804	chr18:40056429-40056430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572943908	chr18:40056435-40056436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138131274	chr18:40056446-40056447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190888348	chr18:40056513-40056514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574325051	chr18:40056565-40056566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531579071	chr18:40056574-40056575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544570279	chr18:40056583-40056584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563157333	chr18:40056593-40056594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577619868	chr18:40056623-40056624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544973923	chr18:40056638-40056639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40055400-40056000	Enhancers	Fetal Heart	heart
2	chr18:40055400-40056800	Weak transcription	Fetal Kidney	kidney
3	chr18:40056800-40057000	Enhancers	Fetal Kidney	kidney
4	chr18:40057000-40057400	Weak transcription	Fetal Kidney	kidney
5	chr18:40057400-40057600	Enhancers	Fetal Kidney	kidney

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