Variant report

Variant	nsv981395
Chromosome Location	chr7:50983477-50986957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191882629	chr7:50983479-50983480	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs200824531	chr7:50983571-50983572	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539594601	chr7:50983583-50983584	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs142147351	chr7:50983682-50983683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572789619	chr7:50983683-50983684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78110186	chr7:50983829-50983830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145906355	chr7:50983832-50983833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11238391	chr7:50983875-50983876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576845906	chr7:50983877-50983878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373132086	chr7:50983889-50983890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543479178	chr7:50983926-50983927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563790008	chr7:50983952-50983953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577394382	chr7:50983988-50983989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182738094	chr7:50984036-50984037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559836713	chr7:50984112-50984113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10486746	chr7:50984149-50984150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548229652	chr7:50984171-50984172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185861365	chr7:50984182-50984183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566024942	chr7:50984187-50984188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190219099	chr7:50984233-50984234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7800732	chr7:50984237-50984238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552084668	chr7:50984247-50984248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539293432	chr7:50984349-50984350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148217441	chr7:50984354-50984355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572722249	chr7:50984377-50984378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535338447	chr7:50984479-50984480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554562087	chr7:50984542-50984543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182477760	chr7:50984569-50984570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537434953	chr7:50984598-50984599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557220976	chr7:50984602-50984603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567218533	chr7:50984627-50984628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114268781	chr7:50984680-50984681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570146187	chr7:50984766-50984767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374130096	chr7:50984773-50984774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140097921	chr7:50984779-50984780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556412080	chr7:50984828-50984829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150289989	chr7:50984846-50984847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377686723	chr7:50984862-50984863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199965570	chr7:50985021-50985022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187929672	chr7:50985024-50985025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534176185	chr7:50985045-50985046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562345965	chr7:50985062-50985063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192222233	chr7:50985107-50985108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142645844	chr7:50985108-50985109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564033971	chr7:50985111-50985112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140270108	chr7:50985129-50985130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546501616	chr7:50985145-50985146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6968511	chr7:50985218-50985219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116966887	chr7:50985243-50985244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115056760	chr7:50985259-50985260	Weak transcription	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
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50983000-50984400	Enhancers	Fetal Brain Male	brain
2	chr7:50983400-50983600	Bivalent Enhancer	HUVEC	blood vessel
3	chr7:50984400-50988600	Weak transcription	Fetal Brain Male	brain
4	chr7:50984600-50998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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