Variant report

Variant	esv3427571
Chromosome Location	chr18:25586204-25588502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560025334	chr18:25586270-25586271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578204951	chr18:25586310-25586311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545650888	chr18:25586360-25586361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563884129	chr18:25586362-25586363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192473113	chr18:25586385-25586386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2310784	chr18:25586399-25586400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561757988	chr18:25586438-25586439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528911817	chr18:25586456-25586457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185689886	chr18:25586457-25586458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141991992	chr18:25586474-25586475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576918961	chr18:25586506-25586507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375309495	chr18:25586510-25586511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577869215	chr18:25586527-25586528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4598992	chr18:25586565-25586566	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539360069	chr18:25586576-25586577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551213378	chr18:25586604-25586605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188999800	chr18:25586619-25586620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373912876	chr18:25586645-25586646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565893803	chr18:25586664-25586665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79932819	chr18:25586684-25586685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35592550	chr18:25586701-25586702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192764084	chr18:25586763-25586764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145638734	chr18:25586842-25586843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539641398	chr18:25586845-25586846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117381168	chr18:25586862-25586863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576164770	chr18:25586932-25586933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574031718	chr18:25586934-25586935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535092014	chr18:25586955-25586956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553109656	chr18:25586970-25586971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184472972	chr18:25586998-25586999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545720022	chr18:25587024-25587025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4470234	chr18:25587041-25587042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188621703	chr18:25587055-25587056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543220781	chr18:25587078-25587079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561439159	chr18:25587080-25587081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs33973654	chr18:25587130-25587131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58093203	chr18:25587131-25587132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377754267	chr18:25587133-25587134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184525765	chr18:25587157-25587158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35340428	chr18:25587159-25587160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528992971	chr18:25587310-25587311	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114770959	chr18:25587320-25587321	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189085149	chr18:25587327-25587328	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531456305	chr18:25587364-25587365	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532936369	chr18:25587405-25587406	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551299596	chr18:25587464-25587465	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149328043	chr18:25587510-25587511	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536876853	chr18:25587550-25587551	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367928322	chr18:25587554-25587555	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11564332	chr18:25587573-25587574	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
5	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
6	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:25564800-25591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:25565000-25592800	Weak transcription	A549	lung
9	chr18:25565200-25591800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:25571600-25588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:25572800-25589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:25573000-25590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:25573600-25591200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:25573600-25593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:25575600-25591400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:25577000-25591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:25577600-25589800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:25578200-25591400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:25579200-25591400	Weak transcription	HepG2	liver
20	chr18:25580600-25593400	Weak transcription	Ovary	ovary
21	chr18:25580600-25595800	Weak transcription	Left Ventricle	heart
22	chr18:25580800-25589600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:25581800-25586400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:25582400-25588400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:25582400-25593200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr18:25582600-25594000	Weak transcription	Dnd41	blood
27	chr18:25583600-25588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:25583600-25599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:25583800-25593600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
31	chr18:25584200-25592400	Weak transcription	Brain Angular Gyrus	brain
32	chr18:25584400-25594200	Weak transcription	Brain Anterior Caudate	brain
33	chr18:25584400-25595000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:25585200-25586400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:25585200-25587600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:25585200-25592800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:25585400-25587400	Strong transcription	NH-A	brain
38	chr18:25585400-25593400	Weak transcription	Fetal Brain Male	brain
39	chr18:25585600-25586400	Strong transcription	Osteobl	bone
40	chr18:25585600-25587400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr18:25585600-25587800	Weak transcription	HUVEC	blood vessel
42	chr18:25585600-25591400	Weak transcription	Fetal Lung	lung
43	chr18:25585600-25592400	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:25585600-25593400	Weak transcription	HSMMtube	muscle
45	chr18:25585800-25591200	Weak transcription	HSMM	muscle
46	chr18:25585800-25594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:25586000-25589600	Weak transcription	Fetal Brain Female	brain
48	chr18:25586200-25587600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr18:25586200-25588000	Weak transcription	Liver	Liver
50	chr18:25586200-25589600	Weak transcription	Fetal Heart	heart

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