Variant report

Variant	nsv888033
Chromosome Location	chr7:52868222-52905932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:52890964..52892745-chr7:52896012..52898226,2	K562	blood:
2	chr7:52890964..52892745-chr7:52896012..52898226,2	K562	blood:

Extended variants
information (count: 471 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541225231	chr7:52874850-52874851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11974654	chr7:52874855-52874856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181204963	chr7:52874865-52874866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186230028	chr7:52874866-52874867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375020831	chr7:52874880-52874881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11974657	chr7:52874893-52874894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs190760226	chr7:52874928-52874929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11978145	chr7:52874937-52874938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143143803	chr7:52874950-52874951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182608263	chr7:52874954-52874955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146189880	chr7:52874980-52874981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367758606	chr7:52875014-52875015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139163317	chr7:52875017-52875018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550028123	chr7:52875057-52875058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187783419	chr7:52875062-52875063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149907372	chr7:52875067-52875068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558957995	chr7:52875191-52875192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572323259	chr7:52875195-52875196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541431355	chr7:52875238-52875239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190755120	chr7:52875268-52875269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545075140	chr7:52875272-52875273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182958875	chr7:52875281-52875282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371242778	chr7:52875285-52875286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375438708	chr7:52875311-52875312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563219880	chr7:52875318-52875319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576908830	chr7:52875354-52875355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545477987	chr7:52875380-52875381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187291372	chr7:52875454-52875455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192979286	chr7:52875477-52875478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369973439	chr7:52875517-52875518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561118668	chr7:52875547-52875548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530209109	chr7:52875550-52875551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184717740	chr7:52875559-52875560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528729127	chr7:52875562-52875563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539126627	chr7:52875567-52875568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553867906	chr7:52875580-52875581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144977869	chr7:52875592-52875593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2912912	chr7:52875602-52875603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188058438	chr7:52875655-52875656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148664108	chr7:52875656-52875657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142188934	chr7:52875658-52875659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147844026	chr7:52875659-52875660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376477675	chr7:52875699-52875700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117314155	chr7:52875709-52875710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2912913	chr7:52875730-52875731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543739665	chr7:52875738-52875739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558887308	chr7:52875759-52875760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200288129	chr7:52875776-52875777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572527393	chr7:52875803-52875804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541451601	chr7:52875808-52875809	Enhancers	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
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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52874800-52876200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:52875200-52876400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:52889200-52889600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:52898200-52900400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:52898400-52900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:52898400-52900800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:52898800-52899200	Enhancers	NH-A	brain
8	chr7:52899400-52899800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:52900000-52901000	Enhancers	Ovary	ovary
10	chr7:52900400-52900800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr7:52900400-52907000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:52905800-52907000	Enhancers	HUVEC	blood vessel

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