Variant report

Variant	esv3400149
Chromosome Location	chr5:49508511-49509680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200005055	chr5:49508519-49508520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544448648	chr5:49508528-49508529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561049453	chr5:49508530-49508531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs529985253	chr5:49508531-49508532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77778362	chr5:49508537-49508538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201090129	chr5:49508543-49508544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201259131	chr5:49508546-49508547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111819418	chr5:49508550-49508551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113859021	chr5:49508551-49508552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111652341	chr5:49508552-49508553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs202192727	chr5:49508553-49508554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs202167150	chr5:49508557-49508558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546871084	chr5:49508564-49508565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74851667	chr5:49508572-49508573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs566602614	chr5:49508599-49508600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2219453	chr5:49508608-49508609	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs551334091	chr5:49508614-49508615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571434959	chr5:49508616-49508617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2219454	chr5:49508632-49508633	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557171062	chr5:49508636-49508637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567842725	chr5:49508642-49508643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs536397487	chr5:49508644-49508645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553635439	chr5:49508645-49508646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376806237	chr5:49508646-49508647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573420759	chr5:49508656-49508657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545014048	chr5:49508661-49508662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558568033	chr5:49508673-49508674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575447647	chr5:49508677-49508678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544317174	chr5:49508679-49508680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561113970	chr5:49508682-49508683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs12658984	chr5:49508686-49508687	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs540012726	chr5:49508699-49508700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201120179	chr5:49508707-49508708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371870664	chr5:49508715-49508716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200592270	chr5:49508724-49508725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187614353	chr5:49508747-49508748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12655271	chr5:49508755-49508756	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs564926271	chr5:49508785-49508786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530957457	chr5:49508789-49508790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188298548	chr5:49508798-49508799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567612161	chr5:49508832-49508833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200627537	chr5:49508844-49508845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201603446	chr5:49508845-49508846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199572669	chr5:49508848-49508849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200660001	chr5:49508854-49508855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77102188	chr5:49508860-49508861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200109015	chr5:49508866-49508867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73614972	chr5:49508867-49508868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78010401	chr5:49508870-49508871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200805299	chr5:49508874-49508875	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:49490200-49514600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49495800-49517800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:49505600-49514600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr5:49507000-49511000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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