Variant report

Variant	nsv971194
Chromosome Location	chr7:52024255-52040459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 348 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574146886	chr7:52024277-52024278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536487927	chr7:52024331-52024332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146060564	chr7:52024354-52024355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112642827	chr7:52024375-52024376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367190	chr7:52024394-52024395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374171870	chr7:52024398-52024399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369768897	chr7:52024399-52024400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116774818	chr7:52024400-52024401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6964129	chr7:52024424-52024425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557383271	chr7:52024455-52024456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375264950	chr7:52024550-52024551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541168847	chr7:52024590-52024591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561474421	chr7:52024595-52024596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183435638	chr7:52024680-52024681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140003957	chr7:52024693-52024694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11303204	chr7:52024724-52024725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143526854	chr7:52024739-52024740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1031910	chr7:52024776-52024777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552113125	chr7:52024777-52024778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565544629	chr7:52024785-52024786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534662515	chr7:52024813-52024814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547964872	chr7:52024835-52024836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568179953	chr7:52024836-52024837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80355174	chr7:52024885-52024886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372894126	chr7:52024924-52024925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139162617	chr7:52024937-52024938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187501758	chr7:52024960-52024961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538954428	chr7:52024963-52024964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190396811	chr7:52024984-52024985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572341736	chr7:52025076-52025077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182607579	chr7:52025109-52025110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373832649	chr7:52025191-52025192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186902626	chr7:52025197-52025198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144984208	chr7:52025200-52025201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114647019	chr7:52027226-52027227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185357165	chr7:52027300-52027301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150461965	chr7:52027342-52027343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572989456	chr7:52027355-52027356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535306579	chr7:52027356-52027357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11980651	chr7:52027368-52027369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376171586	chr7:52027405-52027406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188902894	chr7:52027411-52027412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543773251	chr7:52027469-52027470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138246513	chr7:52027474-52027475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536775530	chr7:52027485-52027486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563750277	chr7:52027489-52027490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577620738	chr7:52027513-52027514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369411311	chr7:52027549-52027550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560033166	chr7:52027569-52027570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149591305	chr7:52027573-52027574	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
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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52018200-52025200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:52027200-52027600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:52030000-52030600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:52032200-52032800	Enhancers	Brain Germinal Matrix	brain
5	chr7:52033600-52034200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:52033800-52034000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:52034200-52038400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:52037800-52038000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:52038200-52042400	Enhancers	Fetal Lung	lung
10	chr7:52038400-52039200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:52038600-52039400	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:52038600-52039400	Enhancers	Brain Hippocampus Middle	brain
13	chr7:52038600-52039400	Enhancers	Ovary	ovary
14	chr7:52040200-52040600	Enhancers	Gastric	stomach

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