Variant report

Variant	nsv960272
Chromosome Location	chr18:29319766-29326931
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	chr18:29321255..29322089-chr18:29396487..29397335,2	MCF-7	breast:
2	chr18:29320909..29321461-chr18:29399293..29400251,2	MCF-7	breast:

Extended variants
information (count: 252 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561568573	chr18:29319780-29319781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16962349	chr18:29319823-29319824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192466855	chr18:29319825-29319826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559519123	chr18:29319956-29319957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34748344	chr18:29319994-29319995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76939676	chr18:29320006-29320007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7233280	chr18:29320015-29320016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138462560	chr18:29320025-29320026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142370176	chr18:29320056-29320057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555138929	chr18:29320066-29320067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535539156	chr18:29320098-29320099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533854248	chr18:29320127-29320128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553816410	chr18:29320173-29320174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112847067	chr18:29320180-29320181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138369646	chr18:29320193-29320194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539200020	chr18:29320194-29320195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12454854	chr18:29320198-29320199	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35129944	chr18:29320328-29320329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182830354	chr18:29320333-29320334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188129050	chr18:29320408-29320409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192928061	chr18:29320419-29320420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541041118	chr18:29320432-29320433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78362977	chr18:29320499-29320500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183977325	chr18:29320510-29320511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557923414	chr18:29320521-29320522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35813990	chr18:29320522-29320523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113148644	chr18:29320557-29320558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559195245	chr18:29320560-29320561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371858997	chr18:29320573-29320574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187589249	chr18:29320582-29320583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572407828	chr18:29320664-29320665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35183606	chr18:29320704-29320705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149283847	chr18:29320725-29320726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144492375	chr18:29320733-29320734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562061526	chr18:29320734-29320735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192012521	chr18:29320737-29320738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547389303	chr18:29320778-29320779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565794764	chr18:29320924-29320925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9957508	chr18:29321029-29321030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371942390	chr18:29321030-29321031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9957511	chr18:29321031-29321032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562176539	chr18:29321033-29321034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545695962	chr18:29321053-29321054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67055184	chr18:29321054-29321055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36117168	chr18:29321058-29321059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539588817	chr18:29321062-29321063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545841290	chr18:29321124-29321125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551550181	chr18:29321264-29321265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114207383	chr18:29321277-29321278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368759143	chr18:29321298-29321299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29306200-29323600	Weak transcription	Psoas Muscle	Psoas
2	chr18:29318800-29320000	Weak transcription	Liver	Liver
3	chr18:29320000-29321400	Enhancers	Liver	Liver
4	chr18:29320800-29321200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr18:29321400-29353800	Weak transcription	Liver	Liver
6	chr18:29323400-29324000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:29323600-29324600	Enhancers	Psoas Muscle	Psoas
8	chr18:29324000-29324600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:29324000-29324600	Enhancers	Esophagus	oesophagus
10	chr18:29324200-29325000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:29324400-29324600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr18:29324400-29325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:29324400-29325400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr18:29324400-29325600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr18:29324400-29325800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr18:29324600-29325000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr18:29324600-29325000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr18:29324600-29325400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr18:29324600-29325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr18:29324600-29327400	Weak transcription	Esophagus	oesophagus
21	chr18:29324600-29331400	Weak transcription	Psoas Muscle	Psoas

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