Variant report

Variant	esv3432090
Chromosome Location	chr18:38837354-38839702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530467812	chr18:38837408-38837409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548612754	chr18:38837425-38837426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577042103	chr18:38837428-38837429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138882008	chr18:38837484-38837485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373451763	chr18:38837501-38837502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117602161	chr18:38837553-38837554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549867718	chr18:38837586-38837587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78107181	chr18:38837604-38837605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200828758	chr18:38837665-38837666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5012143	chr18:38837671-38837672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369671086	chr18:38837735-38837736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143253167	chr18:38837740-38837741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74905532	chr18:38837749-38837750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530737296	chr18:38837775-38837776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185121250	chr18:38837798-38837799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78407477	chr18:38837817-38837818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556320280	chr18:38837854-38837855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1353568	chr18:38837877-38837878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115290102	chr18:38837940-38837941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34275379	chr18:38837951-38837952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576974106	chr18:38837961-38837962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541058737	chr18:38837979-38837980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559661439	chr18:38838023-38838024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112809451	chr18:38838089-38838090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542482225	chr18:38838097-38838098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116008050	chr18:38838109-38838110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531111824	chr18:38838116-38838117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542308235	chr18:38838160-38838161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9709728	chr18:38838161-38838162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144117962	chr18:38838162-38838163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370595560	chr18:38838198-38838199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374286743	chr18:38838201-38838202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35880837	chr18:38838202-38838203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34501707	chr18:38838223-38838224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56068309	chr18:38838224-38838225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113036059	chr18:38838410-38838411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188019129	chr18:38838412-38838413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61426417	chr18:38838522-38838523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181269810	chr18:38838526-38838527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61439488	chr18:38838528-38838529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67249609	chr18:38838530-38838531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185606196	chr18:38838565-38838566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77134276	chr18:38838570-38838571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565640193	chr18:38838572-38838573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563927554	chr18:38838595-38838596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115733792	chr18:38838596-38838597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548062288	chr18:38838597-38838598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191141730	chr18:38838603-38838604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536848217	chr18:38838604-38838605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572367891	chr18:38838611-38838612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	21364760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:38837200-38837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:38837400-38848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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