Variant report

Variant	esv3487867
Chromosome Location	chr7:50104679-50106186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570480607	chr7:50104689-50104690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528061519	chr7:50104700-50104701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568609087	chr7:50104742-50104743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532019636	chr7:50104747-50104748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562323106	chr7:50104753-50104754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150163070	chr7:50104843-50104844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550934775	chr7:50104881-50104882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571001595	chr7:50104898-50104899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181521926	chr7:50104932-50104933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113688574	chr7:50104969-50104970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113092922	chr7:50104978-50104979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117429253	chr7:50105012-50105013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2366027	chr7:50105020-50105021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377659997	chr7:50105054-50105055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77975225	chr7:50105068-50105069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554449942	chr7:50105110-50105111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567770758	chr7:50105111-50105112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187109394	chr7:50105121-50105122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138781083	chr7:50105131-50105132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576955280	chr7:50105143-50105144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545598469	chr7:50105156-50105157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2366028	chr7:50105189-50105190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547521626	chr7:50105236-50105237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572880832	chr7:50105267-50105268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116083246	chr7:50105298-50105299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541807126	chr7:50105307-50105308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191081580	chr7:50105325-50105326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377254723	chr7:50105337-50105338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182687986	chr7:50105345-50105346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141743195	chr7:50105351-50105352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75030249	chr7:50105424-50105425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80193555	chr7:50105429-50105430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145409142	chr7:50105451-50105452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533540868	chr7:50105476-50105477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546779441	chr7:50105481-50105482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566583498	chr7:50105539-50105540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535543277	chr7:50105571-50105572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549011620	chr7:50105599-50105600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186616975	chr7:50105604-50105605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189547170	chr7:50105617-50105618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536983555	chr7:50105673-50105674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557188891	chr7:50105685-50105686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570579028	chr7:50105755-50105756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1911749	chr7:50105771-50105772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534721513	chr7:50105772-50105773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553114064	chr7:50105783-50105784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536381539	chr7:50105823-50105824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573016858	chr7:50105838-50105839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77620066	chr7:50105854-50105855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527909643	chr7:50105857-50105858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	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
Acute lymphoblastic leukemia	18768390	CNVD
Multiple myeloma	16616336	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50103400-50106800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:50105000-50107400	Weak transcription	H1 Cell Line	embryonic stem cell

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