Variant report

Variant	esv3471546
Chromosome Location	chr5:49480814-49482087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537053916	chr5:49480831-49480832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371760532	chr5:49480832-49480833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576733930	chr5:49480833-49480834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539542366	chr5:49480840-49480841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77693916	chr5:49480841-49480842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576338472	chr5:49480868-49480869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542023698	chr5:49480908-49480909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144145553	chr5:49480909-49480910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62386361	chr5:49480912-49480913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562060553	chr5:49480943-49480944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572236190	chr5:49480947-49480948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181316490	chr5:49480952-49480953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541277254	chr5:49480959-49480960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560287043	chr5:49480964-49480965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184894036	chr5:49480978-49480979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555361458	chr5:49480996-49480997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62386362	chr5:49480998-49480999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62386363	chr5:49481008-49481009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79069839	chr5:49481011-49481012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532506367	chr5:49481023-49481024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79905576	chr5:49481025-49481026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74870450	chr5:49481028-49481029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201335568	chr5:49481035-49481036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139713326	chr5:49481038-49481039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145252265	chr5:49481040-49481041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs151167378	chr5:49481048-49481049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79612198	chr5:49481050-49481051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs142945596	chr5:49481059-49481060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150815527	chr5:49481060-49481061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531817726	chr5:49481062-49481063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144408323	chr5:49481074-49481075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138467336	chr5:49481083-49481084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182737994	chr5:49481087-49481088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144690155	chr5:49481094-49481095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112371947	chr5:49481100-49481101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74744475	chr5:49481148-49481149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75156145	chr5:49481164-49481165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74616942	chr5:49481169-49481170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568779009	chr5:49481175-49481176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370094181	chr5:49481178-49481179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534235654	chr5:49481186-49481187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548023361	chr5:49481188-49481189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570375973	chr5:49481189-49481190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200896782	chr5:49481192-49481193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201687123	chr5:49481203-49481204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76603962	chr5:49481209-49481210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79675144	chr5:49481212-49481213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539424783	chr5:49481233-49481234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs199872080	chr5:49481240-49481241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556322429	chr5:49481249-49481250	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:8 , 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

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