Variant report

Variant	esv3471088
Chromosome Location	chr5:117875653-117880251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 417 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539122104	chr5:117875656-117875657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs558812954	chr5:117875667-117875668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs116815695	chr5:117875668-117875669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572390007	chr5:117875673-117875674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372870391	chr5:117875680-117875681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539459048	chr5:117875685-117875686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs188127482	chr5:117875686-117875687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541048716	chr5:117875692-117875693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115576386	chr5:117875694-117875695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142698394	chr5:117875695-117875696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201344375	chr5:117875708-117875709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150216320	chr5:117875711-117875712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141031326	chr5:117875726-117875727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543745577	chr5:117875728-117875729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369853510	chr5:117875731-117875732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs180876258	chr5:117875732-117875733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553336333	chr5:117875737-117875738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141292378	chr5:117875746-117875747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574668728	chr5:117875750-117875751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545865396	chr5:117875752-117875753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs542150863	chr5:117875753-117875754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557246688	chr5:117875754-117875755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373305458	chr5:117875759-117875760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs368374259	chr5:117875760-117875761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370078644	chr5:117875761-117875762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559196151	chr5:117875763-117875764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528068175	chr5:117875766-117875767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149249694	chr5:117875788-117875789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548213700	chr5:117875789-117875790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374297671	chr5:117875795-117875796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199702041	chr5:117875797-117875798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111217382	chr5:117875806-117875807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368202904	chr5:117875810-117875811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs111207352	chr5:117875815-117875816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376017723	chr5:117875825-117875826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142792479	chr5:117875828-117875829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374981904	chr5:117875829-117875830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199526513	chr5:117875831-117875832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372030665	chr5:117875832-117875833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374387464	chr5:117875833-117875834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550941839	chr5:117875836-117875837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570605889	chr5:117875838-117875839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368876364	chr5:117875857-117875858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545888305	chr5:117875865-117875866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs539289545	chr5:117875877-117875878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558976602	chr5:117875880-117875881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs372620899	chr5:117875884-117875885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566042997	chr5:117875885-117875886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111217436	chr5:117875888-117875889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200413882	chr5:117875893-117875894	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117875200-117876000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:117875200-117876000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr5:117875400-117877200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:117875600-117878400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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