Variant report

Variant	nsv436470
Chromosome Location	chr5:117839656-117846417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 301 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563895410	chr5:117839673-117839674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548014351	chr5:117839691-117839692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190620352	chr5:117839714-117839715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566235914	chr5:117839760-117839761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115164180	chr5:117839782-117839783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183850676	chr5:117839805-117839806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548860757	chr5:117839816-117839817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569978079	chr5:117839822-117839823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529245819	chr5:117839878-117839879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537435049	chr5:117839931-117839932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs28513737	chr5:117839937-117839938	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12652598	chr5:117839944-117839945	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145053310	chr5:117839950-117839951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533304197	chr5:117839955-117839956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570709012	chr5:117839964-117839965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552791545	chr5:117840008-117840009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546627448	chr5:117840032-117840033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566807036	chr5:117840045-117840046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149090967	chr5:117840057-117840058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375736349	chr5:117840107-117840108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555654436	chr5:117840120-117840121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569451448	chr5:117840137-117840138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368622861	chr5:117840160-117840161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12657246	chr5:117840202-117840203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557837679	chr5:117840203-117840204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12109752	chr5:117840220-117840221	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143118986	chr5:117840223-117840224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187943796	chr5:117840251-117840252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs74531107	chr5:117840271-117840272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192980415	chr5:117840309-117840310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184225312	chr5:117840345-117840346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531533561	chr5:117840350-117840351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111290527	chr5:117840414-117840415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544921691	chr5:117840416-117840417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs367897817	chr5:117840417-117840418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186559005	chr5:117840423-117840424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191336883	chr5:117840431-117840432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546566163	chr5:117840496-117840497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184545779	chr5:117840521-117840522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76851465	chr5:117840531-117840532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78195006	chr5:117840596-117840597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148121962	chr5:117840606-117840607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538433506	chr5:117840629-117840630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558111977	chr5:117840630-117840631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545806179	chr5:117840678-117840679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs142842080	chr5:117840724-117840725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533903737	chr5:117840776-117840777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563881281	chr5:117840830-117840831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145026067	chr5:117840869-117840870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs117671612	chr5:117840876-117840877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117839600-117841200	ZNF genes & repeats	Left Ventricle	heart
2	chr5:117841200-117859200	Weak transcription	Left Ventricle	heart
3	chr5:117841400-117842600	Enhancers	Primary B cells from cord blood	blood
4	chr5:117841400-117843200	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:117842200-117842800	Enhancers	GM12878-XiMat	blood

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