Variant report

Variant	nsv971565
Chromosome Location	chr7:48724443-48739136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117334792	chr7:48730838-48730839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146373469	chr7:48730848-48730849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566372128	chr7:48730853-48730854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184678100	chr7:48730859-48730860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62457365	chr7:48730862-48730863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541969105	chr7:48730865-48730866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562204467	chr7:48730877-48730878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530954655	chr7:48730884-48730885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550978472	chr7:48730891-48730892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570824697	chr7:48730904-48730905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533687234	chr7:48730905-48730906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547221390	chr7:48730934-48730935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113488779	chr7:48730940-48730941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190307971	chr7:48730981-48730982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554416617	chr7:48730993-48730994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567795186	chr7:48731003-48731004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536685862	chr7:48731009-48731010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55744251	chr7:48731014-48731015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370064710	chr7:48731024-48731025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576402374	chr7:48731025-48731026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563821906	chr7:48731026-48731027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117080660	chr7:48731028-48731029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568426477	chr7:48731035-48731036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549511923	chr7:48731065-48731066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553193994	chr7:48731087-48731088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6948693	chr7:48731089-48731090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193290332	chr7:48731149-48731150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562073505	chr7:48731159-48731160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536853940	chr7:48731190-48731191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575704089	chr7:48731194-48731195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371107711	chr7:48731240-48731241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185047695	chr7:48731242-48731243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6948980	chr7:48731248-48731249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564472529	chr7:48731300-48731301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558473817	chr7:48731347-48731348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533321988	chr7:48731365-48731366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547016739	chr7:48731393-48731394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560834720	chr7:48731394-48731395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189075534	chr7:48731416-48731417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540443166	chr7:48731437-48731438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549541880	chr7:48731479-48731480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370542435	chr7:48731574-48731575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367803152	chr7:48731581-48731582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374216881	chr7:48731589-48731590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150020473	chr7:48731616-48731617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145192752	chr7:48731627-48731628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73096462	chr7:48731651-48731652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553040100	chr7:48731732-48731733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573075277	chr7:48731768-48731769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544199393	chr7:48731824-48731825	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48730800-48732400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:48731000-48732200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:48731600-48732400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:48734200-48734400	Enhancers	Pancreas	Pancrea

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