Variant report

Variant	esv3363702
Chromosome Location	chr18:45210404-45212502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567156881	chr18:45210458-45210459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547564152	chr18:45210469-45210470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567559958	chr18:45210496-45210497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535136760	chr18:45210576-45210577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11874154	chr18:45210647-45210648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145365237	chr18:45210754-45210755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541316703	chr18:45210762-45210763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555442751	chr18:45210765-45210766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190916595	chr18:45210766-45210767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367718519	chr18:45210777-45210778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180868364	chr18:45211085-45211086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573892968	chr18:45211103-45211104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542711870	chr18:45211114-45211115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12954718	chr18:45211131-45211132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368726443	chr18:45211140-45211141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369349685	chr18:45211150-45211151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190912666	chr18:45211153-45211154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371162994	chr18:45211170-45211171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375473191	chr18:45211179-45211180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55774040	chr18:45211186-45211187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71162875	chr18:45211187-45211188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12953579	chr18:45211188-45211189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373509545	chr18:45211195-45211196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12954754	chr18:45211196-45211197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368305655	chr18:45211197-45211198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56225440	chr18:45211204-45211205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183099462	chr18:45211205-45211206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55914738	chr18:45211206-45211207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71355047	chr18:45211214-45211215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187444883	chr18:45211223-45211224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372534812	chr18:45211226-45211227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376836492	chr18:45211233-45211234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368150663	chr18:45211234-45211235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371760072	chr18:45211236-45211237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56378025	chr18:45211243-45211244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375001492	chr18:45211244-45211245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28715779	chr18:45211250-45211251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55760264	chr18:45211251-45211252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28526826	chr18:45211252-45211253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55846027	chr18:45211261-45211262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28714649	chr18:45211270-45211271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55945108	chr18:45211271-45211272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28377862	chr18:45211280-45211281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28645879	chr18:45211286-45211287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28410176	chr18:45211288-45211289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56346507	chr18:45211296-45211297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373468639	chr18:45211299-45211300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373660227	chr18:45211300-45211301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71355048	chr18:45211302-45211303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56250806	chr18:45211306-45211307	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45202600-45210800	Enhancers	Primary B cells from cord blood	blood
2	chr18:45210000-45210800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:45211000-45211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:45211600-45214400	Enhancers	Brain Germinal Matrix	brain

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