Variant report

Variant	esv1810972
Chromosome Location	chr7:53215109-53235518
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	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
2	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188482720	chr7:53215133-53215134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572167449	chr7:53215153-53215154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534604329	chr7:53215154-53215155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143262884	chr7:53215172-53215173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79293338	chr7:53215183-53215184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542922882	chr7:53215247-53215248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148322749	chr7:53215265-53215266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112349821	chr7:53215283-53215284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576601045	chr7:53215294-53215295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6956222	chr7:53215307-53215308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565042904	chr7:53215313-53215314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59439934	chr7:53215316-53215317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111778726	chr7:53215331-53215332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181252192	chr7:53215332-53215333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13221708	chr7:53215333-53215334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57749133	chr7:53215346-53215347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189913278	chr7:53215358-53215359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75530160	chr7:53215359-53215360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549838125	chr7:53215363-53215364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543205006	chr7:53220000-53220001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562845027	chr7:53220006-53220007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs60843166	chr7:53220024-53220025	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545022757	chr7:53220041-53220042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564966553	chr7:53220042-53220043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553293751	chr7:53220047-53220048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192200116	chr7:53220068-53220069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7794859	chr7:53220091-53220092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567546575	chr7:53220096-53220097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201918642	chr7:53220101-53220102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs529850235	chr7:53220104-53220105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201868444	chr7:53220113-53220114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs7794877	chr7:53220128-53220129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113289659	chr7:53220144-53220145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569665061	chr7:53220149-53220150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7795012	chr7:53220181-53220182	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73699920	chr7:53233216-53233217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13312091	chr7:53233218-53233219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13312268	chr7:53233228-53233229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13312307	chr7:53233237-53233238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557213443	chr7:53233254-53233255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13307702	chr7:53233264-53233265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13311758	chr7:53233270-53233271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577014040	chr7:53233278-53233279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13307709	chr7:53233299-53233300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539575914	chr7:53233304-53233305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548982129	chr7:53233310-53233311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13222833	chr7:53233315-53233316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13311769	chr7:53233316-53233317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541500629	chr7:53233354-53233355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138418790	chr7:53233362-53233363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53214000-53215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:53220000-53220200	ZNF genes & repeats	Gastric	stomach
3	chr7:53233200-53233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:53233800-53234400	Active TSS	A549	lung

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