Variant report

Variant	esv3317742
Chromosome Location	chr18:45092079-45093413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45091609..45092140-chr18:45275305..45276040,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566262257	chr18:45092088-45092089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528858652	chr18:45092099-45092100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191944757	chr18:45092147-45092148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144134837	chr18:45092184-45092185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537759077	chr18:45092186-45092187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184887288	chr18:45092196-45092197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114792107	chr18:45092246-45092247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372427100	chr18:45092287-45092288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534018471	chr18:45092317-45092318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542044107	chr18:45092324-45092325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28415897	chr18:45092356-45092357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536614406	chr18:45092485-45092486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117175848	chr18:45092542-45092543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189781455	chr18:45092648-45092649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545295858	chr18:45092653-45092654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565280204	chr18:45092691-45092692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572292316	chr18:45092698-45092699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551583412	chr18:45092747-45092748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73953255	chr18:45092861-45092862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528992670	chr18:45092883-45092884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181033018	chr18:45092906-45092907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562346968	chr18:45092956-45092957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75465192	chr18:45092970-45092971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146490602	chr18:45092977-45092978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9960587	chr18:45093016-45093017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571595155	chr18:45093025-45093026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533948733	chr18:45093038-45093039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376965421	chr18:45093055-45093056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548794353	chr18:45093071-45093072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553734480	chr18:45093080-45093081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9960778	chr18:45093123-45093124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184454033	chr18:45093266-45093267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386802946	chr18:45093276-45093277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8090128	chr18:45093277-45093278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576350449	chr18:45093313-45093314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538684184	chr18:45093341-45093342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561906244	chr18:45093347-45093348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140870322	chr18:45093350-45093351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142178377	chr18:45093365-45093366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116222653	chr18:45093410-45093411	Weak transcription	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45089800-45094000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45090200-45103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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