Variant report

Variant	esv3317767
Chromosome Location	chr18:29031947-29034235
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: 84 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576708897	chr18:29031951-29031952	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs139999039	chr18:29031962-29031963	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs551631422	chr18:29031977-29031978	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs185045721	chr18:29032046-29032047	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs190734661	chr18:29032051-29032052	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs73953170	chr18:29032105-29032106	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570086643	chr18:29032114-29032115	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs537259020	chr18:29032148-29032149	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs2613137	chr18:29032151-29032152	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs181937521	chr18:29032176-29032177	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs184635344	chr18:29032205-29032206	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551382450	chr18:29032208-29032209	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188266875	chr18:29032209-29032210	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145397944	chr18:29032213-29032214	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535014140	chr18:29032217-29032218	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147721358	chr18:29032278-29032279	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181361101	chr18:29032303-29032304	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376778668	chr18:29032348-29032349	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185638347	chr18:29032352-29032353	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535549375	chr18:29032353-29032354	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2613136	chr18:29032390-29032391	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2613135	chr18:29032392-29032393	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554170151	chr18:29032396-29032397	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572342015	chr18:29032407-29032408	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11081697	chr18:29032417-29032418	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532975748	chr18:29032431-29032432	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2704060	chr18:29032453-29032454	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190105892	chr18:29032475-29032476	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200038878	chr18:29032480-29032481	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs398032364	chr18:29032508-29032509	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577610087	chr18:29032570-29032571	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576772239	chr18:29032575-29032576	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11081698	chr18:29032657-29032658	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11081699	chr18:29032670-29032671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs59900059	chr18:29032730-29032731	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs35920783	chr18:29032785-29032786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150244035	chr18:29032800-29032801	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11081700	chr18:29032847-29032848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559345745	chr18:29032851-29032852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532791553	chr18:29032863-29032864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2847369	chr18:29032865-29032866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544948719	chr18:29032880-29032881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2847368	chr18:29032899-29032900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145879935	chr18:29032904-29032905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530686011	chr18:29032952-29032953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548792389	chr18:29032998-29032999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567106207	chr18:29033032-29033033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140933123	chr18:29033113-29033114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6506925	chr18:29033140-29033141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181668472	chr18:29033154-29033155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:34 , 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	chr18:29030800-29032200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:29031400-29032200	Transcr. at gene 5' and 3'	NHEK	skin
5	chr18:29031600-29032000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr18:29031600-29032200	Flanking Active TSS	HMEC	breast
7	chr18:29031600-29034000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:29031800-29032200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:29031800-29032200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:29032000-29034400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:29032200-29032600	Genic enhancers	NHEK	skin
12	chr18:29032200-29033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:29032200-29033200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:29032200-29033400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:29032200-29033800	Enhancers	HMEC	breast
16	chr18:29032600-29032800	Flanking Active TSS	NHEK	skin
17	chr18:29032800-29033200	Enhancers	NHEK	skin
18	chr18:29033200-29033400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:29033200-29033400	Flanking Active TSS	NHEK	skin
20	chr18:29033200-29034600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:29033400-29033600	Enhancers	NHEK	skin
22	chr18:29033400-29034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:29033400-29034400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:29033600-29033800	Flanking Active TSS	NHEK	skin
25	chr18:29033600-29035000	Enhancers	NH-A	brain
26	chr18:29033600-29035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:29033800-29034200	Enhancers	NHEK	skin
28	chr18:29033800-29034400	Active TSS	HMEC	breast
29	chr18:29034000-29034200	Enhancers	A549	lung
30	chr18:29034000-29034400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:29034200-29034600	Flanking Active TSS	A549	lung
32	chr18:29034200-29034600	Flanking Active TSS	NHEK	skin
33	chr18:29034200-29035200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:29034200-29035600	Enhancers	Hela-S3	cervix

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