Variant report

Variant	nsv1019253
Chromosome Location	chr7:57586049-57620767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:26130778..26134198-chr7:57619861..57623955,5	K562	blood:
2	chr20:26131190..26134756-chr7:57619861..57622623,3	K562	blood:
3	chr4:33836938..33837728-chr7:57607899..57608399,2	K562	blood:

Extended variants
information (count: 451 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:451 , 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	rs57787861	chr7:57599272-57599273	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568533635	chr7:57599278-57599279	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529418303	chr7:57599295-57599296	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547768425	chr7:57599353-57599354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539912128	chr7:57599362-57599363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371936945	chr7:57599363-57599364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558201914	chr7:57599364-57599365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371828730	chr7:57599380-57599381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537212931	chr7:57599392-57599393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4870671	chr7:57599393-57599394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573352428	chr7:57599394-57599395	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540772699	chr7:57599452-57599453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374829373	chr7:57599458-57599459	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552922267	chr7:57599463-57599464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577598094	chr7:57599497-57599498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369257043	chr7:57599499-57599500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563411057	chr7:57599503-57599504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530851905	chr7:57599504-57599505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542806388	chr7:57599523-57599524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10215238	chr7:57599562-57599563	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529403863	chr7:57599573-57599574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547952154	chr7:57599578-57599579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4870672	chr7:57599610-57599611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566050074	chr7:57599633-57599634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533200673	chr7:57599643-57599644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181118895	chr7:57599654-57599655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570212283	chr7:57599659-57599660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537350341	chr7:57599667-57599668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs10215025	chr7:57599689-57599690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185227960	chr7:57599709-57599710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs143439111	chr7:57599715-57599716	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534395700	chr7:57599718-57599719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190129992	chr7:57599732-57599733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577686638	chr7:57599735-57599736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544647557	chr7:57599755-57599756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556928068	chr7:57599766-57599767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575565185	chr7:57599772-57599773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542990838	chr7:57599773-57599774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561055596	chr7:57599774-57599775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528329524	chr7:57599778-57599779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs370394824	chr7:57599782-57599783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533476271	chr7:57599799-57599800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551437652	chr7:57599804-57599805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562380109	chr7:57599807-57599808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137962184	chr7:57599808-57599809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199937928	chr7:57599809-57599810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139179834	chr7:57599813-57599814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563748728	chr7:57599822-57599823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531098572	chr7:57599833-57599834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549299726	chr7:57599837-57599838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Esophageal squamous carcinoma	21637470	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57599200-57599800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:57599800-57600800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:57600800-57601200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:57607000-57607800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:57609200-57610400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:57609600-57610000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:57612400-57613200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr7:57612400-57613400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:57612800-57613200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:57613000-57613200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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