Variant report

Variant	nsv1067348
Chromosome Location	chr18:25213808-25239455
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	chr18:25234950..25237172-chr18:25239040..25240563,2	K562	blood:
2	chr18:25234950..25237172-chr18:25239040..25240563,2	K562	blood:

Extended variants
information (count: 778 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112732553	chr18:25215844-25215845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567167367	chr18:25215849-25215850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150637887	chr18:25215868-25215869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150392229	chr18:25215874-25215875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552723915	chr18:25215875-25215876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138646451	chr18:25215879-25215880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538455795	chr18:25215956-25215957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148895263	chr18:25216026-25216027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575006903	chr18:25216027-25216028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376305359	chr18:25216036-25216037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535838959	chr18:25216052-25216053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554192336	chr18:25216062-25216063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112446980	chr18:25216070-25216071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146987513	chr18:25216132-25216133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11873957	chr18:25216159-25216160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs11873263	chr18:25216180-25216181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554179751	chr18:25216344-25216345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376666896	chr18:25216358-25216359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11876039	chr18:25216385-25216386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544403764	chr18:25216405-25216406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181807971	chr18:25216449-25216450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534382416	chr18:25216456-25216457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548580704	chr18:25216491-25216492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138098298	chr18:25216504-25216505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559126580	chr18:25216604-25216605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527702475	chr18:25216635-25216636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552566419	chr18:25216644-25216645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184892159	chr18:25216652-25216653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538017814	chr18:25216653-25216654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550004755	chr18:25216660-25216661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568610207	chr18:25216667-25216668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535972821	chr18:25216684-25216685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190487710	chr18:25216738-25216739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111759632	chr18:25216741-25216742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554257610	chr18:25216756-25216757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78318245	chr18:25216823-25216824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180824104	chr18:25216837-25216838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558529082	chr18:25216840-25216841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143553917	chr18:25216848-25216849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544073448	chr18:25216861-25216862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556420162	chr18:25216863-25216864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532348470	chr18:25216868-25216869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574969185	chr18:25216900-25216901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542309617	chr18:25216904-25216905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560592337	chr18:25216928-25216929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186011113	chr18:25216939-25216940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77925700	chr18:25216981-25216982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564617344	chr18:25217027-25217028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9952141	chr18:25217070-25217071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549941910	chr18:25217071-25217072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute myeloid leukemia	19651600	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25215800-25216400	Enhancers	Fetal Heart	heart
2	chr18:25216000-25216200	Enhancers	HSMMtube	muscle
3	chr18:25216000-25216400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:25216400-25223000	Weak transcription	Fetal Heart	heart
5	chr18:25216600-25217000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:25223000-25225000	Enhancers	Fetal Heart	heart
7	chr18:25227800-25228400	Active TSS	Osteobl	bone
8	chr18:25228200-25228400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:25228400-25229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:25228600-25230200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr18:25228600-25230200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:25229000-25229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:25229000-25230000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:25229200-25230000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr18:25229400-25230000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:25229400-25230000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr18:25229600-25230000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr18:25229600-25230200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:25229800-25230200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr18:25230000-25230200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr18:25230000-25232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:25230200-25232600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:25230200-25232800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:25230200-25233000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:25230600-25232600	Enhancers	Fetal Heart	heart
26	chr18:25231800-25232200	Enhancers	Fetal Lung	lung
27	chr18:25232200-25232400	Enhancers	GM12878-XiMat	blood
28	chr18:25232200-25236000	Weak transcription	Fetal Lung	lung
29	chr18:25232400-25232800	Active TSS	GM12878-XiMat	blood
30	chr18:25232400-25233000	Enhancers	NH-A	brain
31	chr18:25232600-25232800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr18:25232600-25233000	Flanking Active TSS	Fetal Heart	heart
33	chr18:25232600-25233000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr18:25232600-25233000	Enhancers	HSMMtube	muscle
35	chr18:25232600-25233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:25232800-25233000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr18:25233000-25233200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr18:25233000-25235200	Enhancers	Fetal Heart	heart
39	chr18:25233000-25236000	Weak transcription	HSMMtube	muscle
40	chr18:25233000-25236200	Weak transcription	NH-A	brain
41	chr18:25233200-25240400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:25235200-25236200	Weak transcription	Fetal Heart	heart
43	chr18:25235800-25237400	Enhancers	HSMM	muscle
44	chr18:25236000-25236600	Enhancers	Fetal Lung	lung
45	chr18:25236000-25236600	Enhancers	HSMMtube	muscle
46	chr18:25236000-25237200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:25236000-25237800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr18:25236200-25236800	Enhancers	Fetal Heart	heart
49	chr18:25236200-25237000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:25236200-25237400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links