Variant report

Variant	nsv438278
Chromosome Location	chr18:29033140-29034304
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	chr18:29033071..29035215-chr18:29036604..29039421,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6506925	chr18:29033140-29033141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181668472	chr18:29033154-29033155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566121552	chr18:29033226-29033227	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539462069	chr18:29033372-29033373	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10648161	chr18:29033380-29033381	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34510393	chr18:29033381-29033382	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397932978	chr18:29033385-29033386	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561092963	chr18:29033403-29033404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558150055	chr18:29033412-29033413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570385586	chr18:29033427-29033428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3911656	chr18:29033481-29033482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546618235	chr18:29033496-29033497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186546624	chr18:29033512-29033513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149002888	chr18:29033606-29033607	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541565852	chr18:29033627-29033628	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534927900	chr18:29033676-29033677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs3911655	chr18:29033726-29033727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112530496	chr18:29033763-29033764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115318675	chr18:29033825-29033826	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544624594	chr18:29033836-29033837	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533176788	chr18:29033855-29033856	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562919280	chr18:29033869-29033870	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78146305	chr18:29033874-29033875	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs542502032	chr18:29033892-29033893	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560797402	chr18:29033893-29033894	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs8092800	chr18:29033928-29033929	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546736654	chr18:29033994-29033995	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs8092559	chr18:29034003-29034004	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2848700	chr18:29034017-29034018	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533437606	chr18:29034093-29034094	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs8093901	chr18:29034099-29034100	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145260552	chr18:29034143-29034144	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192331597	chr18:29034166-29034167	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556098147	chr18:29034182-29034183	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112576332	chr18:29034206-29034207	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183832720	chr18:29034217-29034218	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375248068	chr18:29034261-29034262	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs8093256	chr18:29034262-29034263	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs36032521	chr18:29034277-29034278	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs8094212	chr18:29034304-29034305	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29030400-29048000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29030600-29034600	Weak transcription	Esophagus	oesophagus
3	chr18:29031600-29034000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr18:29032000-29034400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:29032200-29033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:29032200-29033200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:29032200-29033400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:29032200-29033800	Enhancers	HMEC	breast
9	chr18:29032800-29033200	Enhancers	NHEK	skin
10	chr18:29033200-29033400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:29033200-29033400	Flanking Active TSS	NHEK	skin
12	chr18:29033200-29034600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:29033400-29033600	Enhancers	NHEK	skin
14	chr18:29033400-29034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:29033400-29034400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:29033600-29033800	Flanking Active TSS	NHEK	skin
17	chr18:29033600-29035000	Enhancers	NH-A	brain
18	chr18:29033600-29035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:29033800-29034200	Enhancers	NHEK	skin
20	chr18:29033800-29034400	Active TSS	HMEC	breast
21	chr18:29034000-29034200	Enhancers	A549	lung
22	chr18:29034000-29034400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:29034200-29034600	Flanking Active TSS	A549	lung
24	chr18:29034200-29034600	Flanking Active TSS	NHEK	skin
25	chr18:29034200-29035200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:29034200-29035600	Enhancers	Hela-S3	cervix

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