Variant report

Variant	nsv520092
Chromosome Location	chr7:50943596-50973786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 644 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566734450	chr7:50945418-50945419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535380135	chr7:50945422-50945423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368920812	chr7:50945431-50945432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185477957	chr7:50945447-50945448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202025235	chr7:50945460-50945461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568346256	chr7:50945501-50945502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537565978	chr7:50945594-50945595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543331322	chr7:50945615-50945616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71555913	chr7:50945616-50945617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189899254	chr7:50945697-50945698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545949616	chr7:50945701-50945702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372694632	chr7:50945707-50945708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376645889	chr7:50945780-50945781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573249216	chr7:50945793-50945794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564147734	chr7:50947403-50947404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7792463	chr7:50947405-50947406	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552189326	chr7:50947408-50947409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546709285	chr7:50947416-50947417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556353166	chr7:50947432-50947433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566815204	chr7:50947452-50947453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190376042	chr7:50947471-50947472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549337100	chr7:50947502-50947503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569426883	chr7:50947556-50947557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538550894	chr7:50947564-50947565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577914915	chr7:50947572-50947573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs558448338	chr7:50947610-50947611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs577737487	chr7:50947650-50947651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533736408	chr7:50947651-50947652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553714760	chr7:50947692-50947693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573683268	chr7:50947713-50947714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570605501	chr7:50947743-50947744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542705210	chr7:50947751-50947752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs537899085	chr7:50947752-50947753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201125399	chr7:50947765-50947766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs561363984	chr7:50947766-50947767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547115696	chr7:50947775-50947776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs34790261	chr7:50947822-50947823	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575790797	chr7:50947823-50947824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544904418	chr7:50947834-50947835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564808623	chr7:50947881-50947882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533169531	chr7:50947901-50947902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150075871	chr7:50947954-50947955	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182616179	chr7:50947955-50947956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs138490956	chr7:50948025-50948026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549419492	chr7:50948029-50948030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56025941	chr7:50948057-50948058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531915185	chr7:50948070-50948071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143025259	chr7:50948121-50948122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571988998	chr7:50948155-50948156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111783763	chr7:50948171-50948172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50945400-50945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:50947400-50948000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:50947800-50954800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:50948000-50954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:50948400-50954600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:50948800-50949400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:50953800-50954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:50953800-50955200	Enhancers	Brain Hippocampus Middle	brain
9	chr7:50954000-50955000	Enhancers	Brain Substantia Nigra	brain
10	chr7:50954000-50955400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:50954600-50955000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:50954600-50955000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:50954600-50955000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:50954600-50955200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr7:50954600-50955400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:50954800-50955000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:50954800-50955000	Enhancers	Pancreas	Pancrea
18	chr7:50954800-50955200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:50954800-50955200	Active TSS	HepG2	liver
20	chr7:50954800-50955400	Enhancers	Stomach Mucosa	stomach
21	chr7:50955000-50955200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:50955000-50960600	Weak transcription	Pancreas	Pancrea
23	chr7:50960600-50960800	Enhancers	Pancreas	Pancrea
24	chr7:50963000-50963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:50963800-50964000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:50965800-50967000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:50966200-50966600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:50966200-50966600	Active TSS	A549	lung
29	chr7:50966200-50966600	Active TSS	Hela-S3	cervix
30	chr7:50966200-50966800	Active TSS	K562	blood
31	chr7:50966400-50967000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:50966400-50967000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:50966600-50967000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:50966600-50967000	Active TSS	Placenta	Placenta

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