Variant report

Variant	nsv1017924
Chromosome Location	chr7:19510692-19528988
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	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78970236	chr7:19511472-19511473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75863573	chr7:19511479-19511480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148216787	chr7:19511498-19511499	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2024350	chr7:19511572-19511573	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199938656	chr7:19511577-19511578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116374105	chr7:19511583-19511584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147854787	chr7:19511593-19511594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567122804	chr7:19511607-19511608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141227352	chr7:19511632-19511633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536647504	chr7:19511635-19511636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560988830	chr7:19511653-19511654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555330944	chr7:19511664-19511665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185690463	chr7:19511727-19511728	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537707197	chr7:19511741-19511742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115194968	chr7:19511750-19511751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114128738	chr7:19511769-19511770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150296887	chr7:19511774-19511775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530036626	chr7:19511790-19511791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552303897	chr7:19513008-19513009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145379801	chr7:19513018-19513019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559407124	chr7:19513050-19513051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528782166	chr7:19513069-19513070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546847395	chr7:19513078-19513079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1075135	chr7:19513084-19513085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs200510671	chr7:19513118-19513119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185386170	chr7:19513142-19513143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116690138	chr7:19513153-19513154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149193126	chr7:19513193-19513194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539488300	chr7:19513211-19513212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557492885	chr7:19513220-19513221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569780955	chr7:19513235-19513236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372657185	chr7:19513244-19513245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566416625	chr7:19513272-19513273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534090003	chr7:19513278-19513279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143477131	chr7:19513299-19513300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187909000	chr7:19513302-19513303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148011857	chr7:19513307-19513308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571457797	chr7:19513310-19513311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575670271	chr7:19513319-19513320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546232132	chr7:19513372-19513373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571254974	chr7:19513375-19513376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564330763	chr7:19513381-19513382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117997303	chr7:19513385-19513386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540569117	chr7:19513395-19513396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112571772	chr7:19519218-19519219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373255258	chr7:19519235-19519236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187570887	chr7:19519251-19519252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146697680	chr7:19519279-19519280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531643442	chr7:19519299-19519300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549797246	chr7:19519308-19519309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19511400-19511800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:19513000-19513400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:19519200-19520000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:19527800-19528200	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:19528800-19529000	ZNF genes & repeats	Pancreas	Pancrea

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