Variant report

Variant	nsv514420
Chromosome Location	chr7:52737058-52742302
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	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
2	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552252701	chr7:52737141-52737142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570569405	chr7:52737158-52737159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187557561	chr7:52737172-52737173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574307861	chr7:52737186-52737187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543074689	chr7:52737193-52737194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7800854	chr7:52737197-52737198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6972609	chr7:52737635-52737636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6972623	chr7:52737657-52737658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147274882	chr7:52737683-52737684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552974882	chr7:52737692-52737693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189021296	chr7:52737697-52737698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6971491	chr7:52737707-52737708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193271053	chr7:52737727-52737728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560673955	chr7:52737839-52737840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58379340	chr7:52737843-52737844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116802270	chr7:52737844-52737845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543982012	chr7:52737876-52737877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375078214	chr7:52737890-52737891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371597551	chr7:52737920-52737921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527791129	chr7:52737922-52737923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184604552	chr7:52737970-52737971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532610800	chr7:52737979-52737980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140871546	chr7:52737984-52737985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559281903	chr7:52737985-52737986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6973136	chr7:52738016-52738017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548223394	chr7:52738017-52738018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80339944	chr7:52738028-52738029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149823909	chr7:52738036-52738037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375204230	chr7:52738050-52738051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1661613	chr7:52738136-52738137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6972285	chr7:52738139-52738140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6955260	chr7:52738161-52738162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553109992	chr7:52738191-52738192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6959309	chr7:52738216-52738217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6973629	chr7:52738236-52738237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555439222	chr7:52738238-52738239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575057729	chr7:52738320-52738321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538670046	chr7:52738342-52738343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543784081	chr7:52738360-52738361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557497157	chr7:52738372-52738373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577377204	chr7:52738439-52738440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189040089	chr7:52738508-52738509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181477562	chr7:52738541-52738542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185619580	chr7:52738585-52738586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73338760	chr7:52738608-52738609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35117099	chr7:52738620-52738621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34567158	chr7:52738644-52738645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145834154	chr7:52738669-52738670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570584191	chr7:52738686-52738687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535950484	chr7:52738724-52738725	Enhancers	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52737000-52737200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:52737600-52739000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:52738000-52739000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:52738200-52738600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:52738200-52739000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:52738200-52739000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:52738200-52739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:52738200-52739200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:52738400-52739000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:52738400-52739000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:52738600-52739200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:52739600-52739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:52739800-52746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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