Variant report

Variant	esv3390085
Chromosome Location	chr18:30523654-30527952
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	chr18:30517553..30519382-chr18:30521482..30523955,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185592075	chr18:30523654-30523655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575316168	chr18:30523656-30523657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1539819	chr18:30523659-30523660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539041624	chr18:30523662-30523663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554537899	chr18:30523680-30523681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191024929	chr18:30523705-30523706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540113331	chr18:30523710-30523711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565104089	chr18:30523721-30523722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576934208	chr18:30523799-30523800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544380385	chr18:30523816-30523817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182739619	chr18:30523826-30523827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546509596	chr18:30523856-30523857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557650791	chr18:30523878-30523879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542741172	chr18:30523899-30523900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1539818	chr18:30523981-30523982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560151436	chr18:30524031-30524032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528799574	chr18:30524044-30524045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147447875	chr18:30524079-30524080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571890683	chr18:30524086-30524087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538894745	chr18:30524097-30524098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187231711	chr18:30524133-30524134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560046820	chr18:30524190-30524191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536297698	chr18:30524193-30524194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554551937	chr18:30524270-30524271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1941273	chr18:30524296-30524297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534116357	chr18:30524299-30524300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558613402	chr18:30524312-30524313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577059248	chr18:30524314-30524315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191965595	chr18:30524329-30524330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370597412	chr18:30524374-30524375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532345970	chr18:30524419-30524420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377436007	chr18:30524463-30524464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562628093	chr18:30524520-30524521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574596071	chr18:30524565-30524566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541915279	chr18:30524580-30524581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16964122	chr18:30524606-30524607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35251779	chr18:30524627-30524628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527319323	chr18:30524640-30524641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552131526	chr18:30524656-30524657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113637740	chr18:30524671-30524672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149582694	chr18:30524727-30524728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144361104	chr18:30524818-30524819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569067436	chr18:30524883-30524884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530149443	chr18:30524901-30524902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201767763	chr18:30524931-30524932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548247469	chr18:30525050-30525051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554857459	chr18:30525114-30525115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566935084	chr18:30525123-30525124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533979934	chr18:30525199-30525200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16964123	chr18:30525250-30525251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30523600-30524400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:30524400-30526000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:30526000-30527000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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