Variant report

Variant	esv2620257
Chromosome Location	chr5:49480382-49482464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554811565	chr5:49480385-49480386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374383061	chr5:49480391-49480392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377451625	chr5:49480409-49480410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201267288	chr5:49480411-49480412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574391283	chr5:49480417-49480418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569225431	chr5:49480423-49480424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs367841688	chr5:49480427-49480428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576863280	chr5:49480464-49480465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75301297	chr5:49480465-49480466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546020511	chr5:49480470-49480471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112884173	chr5:49480471-49480472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76129556	chr5:49480480-49480481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191165164	chr5:49480492-49480493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs180931877	chr5:49480499-49480500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs76338621	chr5:49480500-49480501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199694396	chr5:49480537-49480538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542160703	chr5:49480587-49480588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561948084	chr5:49480609-49480610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530134455	chr5:49480622-49480623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546673503	chr5:49480624-49480625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565159793	chr5:49480625-49480626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532506916	chr5:49480627-49480628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552204195	chr5:49480635-49480636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182083491	chr5:49480679-49480680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113522299	chr5:49480691-49480692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186853252	chr5:49480692-49480693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112863871	chr5:49480718-49480719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538834600	chr5:49480732-49480733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200425795	chr5:49480736-49480737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548508064	chr5:49480741-49480742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186148917	chr5:49480748-49480749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568639826	chr5:49480750-49480751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551488917	chr5:49480772-49480773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189712998	chr5:49480786-49480787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569615750	chr5:49480793-49480794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369264622	chr5:49480796-49480797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533833843	chr5:49480802-49480803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537053916	chr5:49480831-49480832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371760532	chr5:49480832-49480833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576733930	chr5:49480833-49480834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539542366	chr5:49480840-49480841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77693916	chr5:49480841-49480842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576338472	chr5:49480868-49480869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542023698	chr5:49480908-49480909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144145553	chr5:49480909-49480910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62386361	chr5:49480912-49480913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562060553	chr5:49480943-49480944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572236190	chr5:49480947-49480948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181316490	chr5:49480952-49480953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541277254	chr5:49480959-49480960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:49471000-49486200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:49477000-49482400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr5:49481000-49481400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:49481200-49486200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr5:49481400-49482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:49482200-49482600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:49482200-49482600	ZNF genes & repeats	HUVEC	blood vessel
11	chr5:49482200-49482600	ZNF genes & repeats	NH-A	brain

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