Variant report

Variant	esv3330931
Chromosome Location	chr18:45126767-45127650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530738347	chr18:45126784-45126785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369561052	chr18:45126911-45126912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377034035	chr18:45126912-45126913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114128071	chr18:45126913-45126914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201445791	chr18:45126920-45126921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386802953	chr18:45126928-45126929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373273035	chr18:45126932-45126933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79666063	chr18:45126934-45126935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117843544	chr18:45126935-45126936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377482025	chr18:45126936-45126937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113178249	chr18:45126937-45126938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76582880	chr18:45126939-45126940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76026992	chr18:45126945-45126946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74813074	chr18:45126946-45126947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77947165	chr18:45126949-45126950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79509412	chr18:45126954-45126955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79601445	chr18:45126955-45126956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368424620	chr18:45126963-45126964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78498068	chr18:45126964-45126965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75025092	chr18:45126965-45126966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77704964	chr18:45126970-45126971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74346559	chr18:45126971-45126972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77734294	chr18:45126979-45126980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78227267	chr18:45126981-45126982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201489624	chr18:45126990-45126991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199710575	chr18:45126998-45126999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200845506	chr18:45127008-45127009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544673326	chr18:45127037-45127038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117221919	chr18:45127071-45127072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144199682	chr18:45127085-45127086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546677370	chr18:45127086-45127087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566888295	chr18:45127110-45127111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529529000	chr18:45127129-45127130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578081115	chr18:45127134-45127135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569081767	chr18:45127138-45127139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372881133	chr18:45127170-45127171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12955881	chr18:45127335-45127336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114369723	chr18:45127382-45127383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550793393	chr18:45127396-45127397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202056360	chr18:45127420-45127421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377169171	chr18:45127421-45127422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561337243	chr18:45127508-45127509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367901186	chr18:45127520-45127521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570443049	chr18:45127537-45127538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539566319	chr18:45127545-45127546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552669941	chr18:45127557-45127558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36079943	chr18:45127568-45127569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374734955	chr18:45127623-45127624	Weak transcription ZNF genes & repeats Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45121600-45127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45121800-45127600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:45122600-45128200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:45122600-45128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:45127400-45128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:45127600-45128000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:45127600-45131800	Enhancers	Brain Germinal Matrix	brain

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