Variant report

Variant	nsv514422
Chromosome Location	chr7:53456030-53464822
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	chr7:53460851..53461831-chr9:14244620..14245120,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191309455	chr7:53456048-53456049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542536516	chr7:53456087-53456088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183677810	chr7:53456097-53456098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372431960	chr7:53456106-53456107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528076740	chr7:53456109-53456110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540252067	chr7:53456115-53456116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187519335	chr7:53456140-53456141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377568765	chr7:53456244-53456245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550463592	chr7:53456295-53456296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569039747	chr7:53456329-53456330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529887257	chr7:53456416-53456417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562382030	chr7:53456422-53456423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548062272	chr7:53456459-53456460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529465523	chr7:53456469-53456470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551197575	chr7:53456499-53456500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566455832	chr7:53456519-53456520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533902187	chr7:53456529-53456530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558924669	chr7:53456560-53456561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570815154	chr7:53456607-53456608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538339971	chr7:53456619-53456620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556428043	chr7:53456684-53456685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73363589	chr7:53456699-53456700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192343997	chr7:53456711-53456712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554485548	chr7:53456756-53456757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572799404	chr7:53456821-53456822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183262649	chr7:53456822-53456823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533305996	chr7:53456910-53456911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564907529	chr7:53456917-53456918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9642511	chr7:53456941-53456942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11978823	chr7:53456959-53456960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147104610	chr7:53457019-53457020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534215141	chr7:53457044-53457045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529814501	chr7:53457116-53457117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548001591	chr7:53457123-53457124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566392492	chr7:53457137-53457138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186565917	chr7:53457199-53457200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138564280	chr7:53457264-53457265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552240607	chr7:53457265-53457266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570822121	chr7:53457284-53457285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192748881	chr7:53457299-53457300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369080960	chr7:53457355-53457356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374072031	chr7:53457400-53457401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528040682	chr7:53457401-53457402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539350036	chr7:53457405-53457406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543073312	chr7:53457434-53457435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548967666	chr7:53457444-53457445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144125193	chr7:53457450-53457451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11972381	chr7:53457480-53457481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536031274	chr7:53457523-53457524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554423995	chr7:53457531-53457532	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53448000-53456600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:53456600-53456800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:53456800-53457200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:53457200-53457800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:53464200-53464400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:53464400-53465000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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