Variant report

Variant	nsv606990
Chromosome Location	chr7:52724902-52750565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:
2	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
3	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:

Extended variants
information (count: 654 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529025358	chr7:52725225-52725226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540577045	chr7:52725246-52725247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551864027	chr7:52725285-52725286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182993869	chr7:52725316-52725317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534147085	chr7:52725319-52725320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188443848	chr7:52725344-52725345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77541508	chr7:52725356-52725357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536538154	chr7:52725369-52725370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201847121	chr7:52725370-52725371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543817274	chr7:52725371-52725372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116765689	chr7:52725394-52725395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576510003	chr7:52725403-52725404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532490856	chr7:52725420-52725421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192709364	chr7:52725422-52725423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56164006	chr7:52725425-52725426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183141545	chr7:52725448-52725449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17135242	chr7:52725488-52725489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547613858	chr7:52725526-52725527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560915614	chr7:52725552-52725553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200173099	chr7:52725577-52725578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66519216	chr7:52725582-52725583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35105534	chr7:52725583-52725584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74458432	chr7:52725585-52725586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530051003	chr7:52725655-52725656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374978766	chr7:52725699-52725700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543353976	chr7:52725709-52725710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563200701	chr7:52725761-52725762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531996855	chr7:52725773-52725774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115065813	chr7:52725775-52725776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10224969	chr7:52725826-52725827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187677042	chr7:52725856-52725857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548093314	chr7:52725896-52725897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34820754	chr7:52725909-52725910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144137411	chr7:52725950-52725951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536808094	chr7:52725959-52725960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73120124	chr7:52725967-52725968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191203799	chr7:52725973-52725974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539061949	chr7:52725978-52725979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564244214	chr7:52726005-52726006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147988067	chr7:52726024-52726025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534804066	chr7:52726028-52726029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555001083	chr7:52726029-52726030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150540142	chr7:52726044-52726045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543567683	chr7:52726048-52726049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114547834	chr7:52726069-52726070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34489401	chr7:52726102-52726103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73696273	chr7:52726117-52726118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374643590	chr7:52726143-52726144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576589527	chr7:52726149-52726150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117397835	chr7:52726214-52726215	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52725200-52725600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:52725400-52726000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:52725600-52726200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:52725600-52726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:52726000-52727000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:52726200-52726800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:52726600-52726800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:52726800-52727000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:52727000-52727200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:52731800-52732600	Enhancers	HUVEC	blood vessel
11	chr7:52735600-52736400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:52736400-52736600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:52736600-52737000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:52737000-52737200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:52737600-52739000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:52738000-52739000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:52738200-52738600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:52738200-52739000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:52738200-52739000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:52738200-52739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:52738200-52739200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:52738400-52739000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:52738400-52739000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:52738600-52739200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:52739600-52739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:52739800-52746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:52746200-52746400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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