Variant report

Variant	esv2379992
Chromosome Location	chr5:117876675-117877065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367740983	chr5:117876676-117876677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs202179637	chr5:117876682-117876683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs192757753	chr5:117876689-117876690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139046728	chr5:117876693-117876694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184970091	chr5:117876694-117876695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187484362	chr5:117876696-117876697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs114988448	chr5:117876701-117876702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557278107	chr5:117876714-117876715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369646352	chr5:117876716-117876717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576845995	chr5:117876718-117876719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556458151	chr5:117876728-117876729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576122482	chr5:117876734-117876735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150297140	chr5:117876737-117876738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545211223	chr5:117876741-117876742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371534051	chr5:117876745-117876746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375849869	chr5:117876747-117876748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs199961202	chr5:117876764-117876765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201084464	chr5:117876766-117876767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540775580	chr5:117876768-117876769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560484601	chr5:117876777-117876778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555754924	chr5:117876783-117876784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549664017	chr5:117876785-117876786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563216376	chr5:117876788-117876789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377111330	chr5:117876802-117876803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369414688	chr5:117876812-117876813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573715359	chr5:117876819-117876820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531762037	chr5:117876820-117876821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111207356	chr5:117876851-117876852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571787298	chr5:117876875-117876876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533640289	chr5:117876881-117876882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547120698	chr5:117876887-117876888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566909717	chr5:117876892-117876893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539409022	chr5:117876895-117876896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201216485	chr5:117876908-117876909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111207357	chr5:117876909-117876910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192723384	chr5:117876914-117876915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544557759	chr5:117876924-117876925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556156091	chr5:117876930-117876931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184516009	chr5:117876969-117876970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146724961	chr5:117876971-117876972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111217537	chr5:117876979-117876980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200813043	chr5:117876980-117876981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201794452	chr5:117876983-117876984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200334763	chr5:117876984-117876985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202066920	chr5:117876985-117876986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150765408	chr5:117876988-117876989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs578085207	chr5:117876996-117876997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556420055	chr5:117877001-117877002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540714827	chr5:117877003-117877004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560584161	chr5:117877012-117877013	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117875400-117877200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:117875600-117878400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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