Variant report

Variant	esv1822969
Chromosome Location	chr18:40161230-40164937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373091652	chr18:40161274-40161275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376363321	chr18:40161282-40161283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535025711	chr18:40161339-40161340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555456163	chr18:40161346-40161347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556363371	chr18:40161358-40161359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571429351	chr18:40161363-40161364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7238529	chr18:40161451-40161452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116333332	chr18:40161478-40161479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572087073	chr18:40161479-40161480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534800009	chr18:40161495-40161496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186309203	chr18:40161526-40161527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554169858	chr18:40161565-40161566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576300509	chr18:40161578-40161579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79593490	chr18:40161592-40161593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147955772	chr18:40161599-40161600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577368692	chr18:40161637-40161638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541307611	chr18:40161675-40161676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190421638	chr18:40161705-40161706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181604863	chr18:40161706-40161707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185930388	chr18:40161715-40161716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139874923	chr18:40161772-40161773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531599162	chr18:40161853-40161854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550103578	chr18:40161913-40161914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145328371	chr18:40161923-40161924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553519095	chr18:40161972-40161973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576363212	chr18:40161973-40161974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191098514	chr18:40162009-40162010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538818749	chr18:40162083-40162084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183285845	chr18:40162117-40162118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185423147	chr18:40162159-40162160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535962831	chr18:40162216-40162217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554108611	chr18:40162219-40162220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575641844	chr18:40162279-40162280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570915452	chr18:40162354-40162355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59932656	chr18:40162364-40162365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563935271	chr18:40162370-40162371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559197163	chr18:40162372-40162373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75515014	chr18:40162401-40162402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147697481	chr18:40162435-40162436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149156700	chr18:40162441-40162442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559719886	chr18:40162456-40162457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574953330	chr18:40162465-40162466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142318859	chr18:40162562-40162563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7359827	chr18:40162572-40162573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543332646	chr18:40162586-40162587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542354587	chr18:40162590-40162591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563629910	chr18:40162615-40162616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530925844	chr18:40162641-40162642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552645815	chr18:40162648-40162649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565172085	chr18:40162668-40162669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40160800-40162400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr18:40160800-40163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:40160800-40166400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:40161200-40161400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr18:40161200-40162200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:40161200-40162400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:40161400-40166400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:40162000-40162200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:40162200-40163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr18:40162400-40163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:40162400-40164000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:40162400-40164200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:40163200-40163800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr18:40163400-40163600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr18:40163600-40163800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr18:40163600-40164000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:40163600-40164000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:40163600-40164400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:40163800-40164000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr18:40163800-40164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:40163800-40164200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr18:40164000-40164800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:40164000-40165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:40164000-40166000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:40164000-40166200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:40164200-40167400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr18:40164200-40167800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:40164400-40165600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr18:40164800-40167600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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