Variant report

Variant	nsv1026209
Chromosome Location	chr7:53328721-53354464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 293 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28588466	chr7:53339462-53339463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139575562	chr7:53339467-53339468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34907890	chr7:53339591-53339592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566213951	chr7:53339612-53339613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11506089	chr7:53339632-53339633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533292226	chr7:53339651-53339652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555049081	chr7:53339679-53339680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551781754	chr7:53339684-53339685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34525577	chr7:53339685-53339686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190596092	chr7:53339690-53339691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397722784	chr7:53339693-53339694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568354512	chr7:53339703-53339704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56345811	chr7:53339727-53339728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556980493	chr7:53339732-53339733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182888060	chr7:53339796-53339797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563562756	chr7:53339809-53339810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149913695	chr7:53339817-53339818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545696571	chr7:53339824-53339825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566909899	chr7:53339842-53339843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187735166	chr7:53339873-53339874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191406750	chr7:53339922-53339923	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549303582	chr7:53339940-53339941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10250277	chr7:53339971-53339972	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144989449	chr7:53339990-53339991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544146616	chr7:53340014-53340015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149097996	chr7:53340018-53340019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182624717	chr7:53340068-53340069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs552833993	chr7:53340078-53340079	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs10235222	chr7:53340116-53340117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528638146	chr7:53340117-53340118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538390391	chr7:53340206-53340207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143181264	chr7:53340224-53340225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537074692	chr7:53340225-53340226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571710376	chr7:53340268-53340269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546350300	chr7:53340285-53340286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557291054	chr7:53340295-53340296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570686903	chr7:53340328-53340329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146759604	chr7:53340329-53340330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10253923	chr7:53340367-53340368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10253927	chr7:53340372-53340373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541584090	chr7:53340373-53340374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555172525	chr7:53340386-53340387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187303879	chr7:53340404-53340405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544767519	chr7:53340412-53340413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10253944	chr7:53340426-53340427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564089050	chr7:53340434-53340435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577515562	chr7:53340512-53340513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562972784	chr7:53340516-53340517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546509585	chr7:53340571-53340572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533453855	chr7:53340603-53340604	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
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
Breast cancer	21990379	CNVD
Cognitive impairment	21505072	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53339400-53339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:53339400-53341400	Enhancers	Fetal Heart	heart
3	chr7:53339600-53339800	Enhancers	Colon Smooth Muscle	Colon
4	chr7:53339600-53340200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:53339800-53340000	Enhancers	Right Atrium	heart
6	chr7:53339800-53340200	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr7:53339800-53340600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:53339800-53341000	Enhancers	Brain Angular Gyrus	brain
9	chr7:53339800-53341000	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:53340200-53341200	Enhancers	Colon Smooth Muscle	Colon
11	chr7:53340200-53341400	Enhancers	Brain Hippocampus Middle	brain
12	chr7:53340600-53341000	Enhancers	Brain Germinal Matrix	brain
13	chr7:53340600-53341000	Enhancers	Fetal Brain Female	brain
14	chr7:53340600-53341200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:53341000-53341400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:53341200-53342600	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:53345200-53348400	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:53348000-53348600	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:53348400-53348800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:53349000-53349400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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