Variant report

Variant	nsv442042
Chromosome Location	chr7:48581852-48592025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 361 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75657058	chr7:48581886-48581887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565657205	chr7:48581892-48581893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199915478	chr7:48581972-48581973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528419105	chr7:48581995-48581996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545146949	chr7:48582033-48582034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181935394	chr7:48582096-48582097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537201397	chr7:48582154-48582155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557198387	chr7:48582249-48582250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145724803	chr7:48582293-48582294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373349378	chr7:48582294-48582295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570580397	chr7:48582383-48582384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78106470	chr7:48582401-48582402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12670340	chr7:48582495-48582496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572899761	chr7:48582534-48582535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542200517	chr7:48582629-48582630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555986893	chr7:48582653-48582654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1527841	chr7:48582753-48582754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544756530	chr7:48582778-48582779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10248546	chr7:48582817-48582818	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531508021	chr7:48582896-48582897	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184589243	chr7:48582914-48582915	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188514637	chr7:48582925-48582926	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34252471	chr7:48582957-48582958	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141831111	chr7:48582971-48582972	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548189510	chr7:48582974-48582975	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568319111	chr7:48583014-48583015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530635697	chr7:48583027-48583028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550397277	chr7:48583076-48583077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146287159	chr7:48583089-48583090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539591599	chr7:48583120-48583121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553041468	chr7:48583152-48583153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566537166	chr7:48583168-48583169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367604045	chr7:48583175-48583176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111324443	chr7:48583180-48583181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555800651	chr7:48583193-48583194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546868567	chr7:48583227-48583228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114111397	chr7:48583266-48583267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538133788	chr7:48583281-48583282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533227654	chr7:48583327-48583328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563405211	chr7:48583348-48583349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578208552	chr7:48583360-48583361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200854961	chr7:48583457-48583458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144504844	chr7:48583460-48583461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377445647	chr7:48583461-48583462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36096595	chr7:48583462-48583463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369729191	chr7:48583493-48583494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559442189	chr7:48583503-48583504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566740918	chr7:48583505-48583506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572769854	chr7:48583515-48583516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372546081	chr7:48583603-48583604	Strong transcription	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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48581200-48582800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48582800-48583000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:48583000-48583600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48583600-48585400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:48585400-48586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:48586800-48587200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:48587200-48588000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:48587400-48588200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:48588000-48589200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:48588200-48588600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:48588200-48588800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:48588600-48588800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:48588800-48591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:48589200-48602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:48590800-48591600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:48590800-48592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:48591400-48591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:48591400-48592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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