Variant report

Variant	nsv442041
Chromosome Location	chr7:48392771-48401303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 302 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs11983883	chr7:48392771-48392772	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569187803	chr7:48392801-48392802	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563819422	chr7:48392807-48392808	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577704509	chr7:48392809-48392810	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147902210	chr7:48392817-48392818	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560142407	chr7:48392848-48392849	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528886774	chr7:48392950-48392951	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549260382	chr7:48392978-48392979	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562786800	chr7:48393032-48393033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531506806	chr7:48393066-48393067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148965475	chr7:48393104-48393105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571633887	chr7:48393150-48393151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182685222	chr7:48393153-48393154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547470233	chr7:48393189-48393190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531986206	chr7:48393244-48393245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372951799	chr7:48393279-48393280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567601444	chr7:48393304-48393305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143633176	chr7:48393344-48393345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80031271	chr7:48393428-48393429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576347661	chr7:48393431-48393432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151036552	chr7:48393502-48393503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62449224	chr7:48393516-48393517	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577663182	chr7:48393519-48393520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540277217	chr7:48393530-48393531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550568526	chr7:48393540-48393541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560002619	chr7:48393586-48393587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188952009	chr7:48393623-48393624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542667525	chr7:48393624-48393625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562749130	chr7:48393664-48393665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140866886	chr7:48393686-48393687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191102403	chr7:48393708-48393709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368888688	chr7:48393733-48393734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565133697	chr7:48393742-48393743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62449225	chr7:48393762-48393763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73323773	chr7:48393839-48393840	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182896082	chr7:48393841-48393842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150163508	chr7:48393885-48393886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79926152	chr7:48393991-48393992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549800597	chr7:48394027-48394028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552799165	chr7:48394045-48394046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571094559	chr7:48394050-48394051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535238596	chr7:48394055-48394056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187532851	chr7:48394083-48394084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192307744	chr7:48394166-48394167	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558954063	chr7:48394173-48394174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138775817	chr7:48394200-48394201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141743541	chr7:48394235-48394236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539487140	chr7:48394281-48394282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553802895	chr7:48394325-48394326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573683313	chr7:48394348-48394349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48378800-48392800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:48389400-48393000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:48392200-48392800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr7:48392600-48392800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:48392600-48393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:48392600-48395400	Strong transcription	Primary hematopoietic stem cells	blood
7	chr7:48392800-48393000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:48392800-48400600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:48393000-48393800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:48393400-48395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:48394600-48394800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:48395400-48406400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:48398600-48399000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:48399000-48399200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:48400600-48403000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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