Variant report

Variant	esv3366515
Chromosome Location	chr7:53725458-53727406
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	chr10:111828622..111831143-chr7:53725835..53727590,2	MCF-7	breast:
2	chr7:53720640..53722704-chr7:53723589..53725736,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114409286	chr7:53725471-53725472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567252307	chr7:53725558-53725559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369253500	chr7:53725588-53725589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188669527	chr7:53725641-53725642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541947227	chr7:53725685-53725686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10239883	chr7:53725699-53725700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34448115	chr7:53725710-53725711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10239991	chr7:53725801-53725802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192199711	chr7:53725826-53725827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564575202	chr7:53725842-53725843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535521288	chr7:53725857-53725858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532067502	chr7:53725932-53725933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11238282	chr7:53725939-53725940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562505994	chr7:53725949-53725950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200902660	chr7:53725992-53725993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183521816	chr7:53726117-53726118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143603480	chr7:53726141-53726142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77062756	chr7:53726162-53726163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376728120	chr7:53726184-53726185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566650063	chr7:53726199-53726200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186756674	chr7:53726226-53726227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564422802	chr7:53726275-53726276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6976820	chr7:53726293-53726294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148185346	chr7:53726310-53726311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141544398	chr7:53726384-53726385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556117425	chr7:53726459-53726460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191604178	chr7:53726527-53726528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73696801	chr7:53726544-53726545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112791510	chr7:53726549-53726550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183980975	chr7:53726559-53726560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546050051	chr7:53726660-53726661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528541160	chr7:53726682-53726683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139250472	chr7:53726715-53726716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142554743	chr7:53726716-53726717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188294919	chr7:53726724-53726725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192831281	chr7:53726794-53726795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150571345	chr7:53726806-53726807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541819100	chr7:53726820-53726821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10225959	chr7:53726826-53726827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78912183	chr7:53726866-53726867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552069157	chr7:53726909-53726910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570653224	chr7:53726937-53726938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78876182	chr7:53726939-53726940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114982472	chr7:53726945-53726946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549702176	chr7:53726953-53726954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115531399	chr7:53726981-53726982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80143806	chr7:53727035-53727036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547789470	chr7:53727056-53727057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185363629	chr7:53727109-53727110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566007695	chr7:53727111-53727112	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53724400-53725800	Enhancers	NHEK	skin
2	chr7:53724600-53725800	Enhancers	HMEC	breast
3	chr7:53725000-53725600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:53725200-53726800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:53725600-53726600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:53726800-53727000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:53726800-53727400	Enhancers	HUES64 Cell Line	embryonic stem cell

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