Variant report

Variant	nsv599082
Chromosome Location	chr5:97934649-97936549
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	chr5:97927404..97929282-chr5:97932064..97934664,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180981845	chr5:97934689-97934690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs17842413	chr5:97934693-97934694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368051796	chr5:97934748-97934749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571869883	chr5:97934762-97934763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565226821	chr5:97934773-97934774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185261497	chr5:97934790-97934791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544823202	chr5:97934793-97934794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563107399	chr5:97934851-97934852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141643814	chr5:97934854-97934855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs17842412	chr5:97934877-97934878	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188846756	chr5:97934887-97934888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528064741	chr5:97935074-97935075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546534673	chr5:97935111-97935112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147139144	chr5:97935133-97935134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs17132943	chr5:97935134-97935135	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181279136	chr5:97935137-97935138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574045587	chr5:97935157-97935158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186969171	chr5:97935244-97935245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140652173	chr5:97935253-97935254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76571846	chr5:97935254-97935255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371912877	chr5:97935271-97935272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs191408218	chr5:97935315-97935316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs144527322	chr5:97935372-97935373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs115890101	chr5:97935383-97935384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184103438	chr5:97935390-97935391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187066874	chr5:97935395-97935396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190801522	chr5:97935402-97935403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575089679	chr5:97935422-97935423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs467657	chr5:97935437-97935438	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147838053	chr5:97935502-97935503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs469491	chr5:97935503-97935504	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs117170559	chr5:97935505-97935506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139158795	chr5:97935520-97935521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201935504	chr5:97935521-97935522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs468016	chr5:97935527-97935528	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149922223	chr5:97935559-97935560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530225743	chr5:97935572-97935573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564792219	chr5:97935585-97935586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs548725377	chr5:97935595-97935596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114818859	chr5:97935619-97935620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112254518	chr5:97935654-97935655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186621489	chr5:97935699-97935700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149849799	chr5:97935739-97935740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558560949	chr5:97935788-97935789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371930677	chr5:97935809-97935810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570488426	chr5:97935840-97935841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115655707	chr5:97935872-97935873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556229886	chr5:97935888-97935889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs191869224	chr5:97935897-97935898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542459977	chr5:97935899-97935900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97933800-97939600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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