Variant report

Variant	esv3399802
Chromosome Location	chr5:46348695-46353093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 556 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192997171	chr5:46348695-46348696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560783923	chr5:46348697-46348698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113333012	chr5:46348706-46348707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531221727	chr5:46348724-46348725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563526414	chr5:46348731-46348732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183457017	chr5:46348740-46348741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561633027	chr5:46348744-46348745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375615797	chr5:46348747-46348748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368357164	chr5:46348754-46348755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372578626	chr5:46348758-46348759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116351775	chr5:46348764-46348765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570675487	chr5:46348768-46348769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539237495	chr5:46348769-46348770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550136179	chr5:46348774-46348775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185950169	chr5:46348787-46348788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs183204742	chr5:46348792-46348793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs569933642	chr5:46348810-46348811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199503839	chr5:46348813-46348814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538244346	chr5:46348820-46348821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs187279871	chr5:46348825-46348826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377136288	chr5:46348847-46348848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534349036	chr5:46348856-46348857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553952294	chr5:46348857-46348858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543118343	chr5:46348870-46348871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78614631	chr5:46348873-46348874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76539090	chr5:46348878-46348879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75923765	chr5:46348883-46348884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77395490	chr5:46348899-46348900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79928505	chr5:46348900-46348901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75573071	chr5:46348902-46348903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76532811	chr5:46348914-46348915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116768447	chr5:46348932-46348933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200778628	chr5:46348953-46348954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566493751	chr5:46348986-46348987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201718131	chr5:46348989-46348990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200103932	chr5:46348991-46348992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200867406	chr5:46348992-46348993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190666530	chr5:46348996-46348997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201650695	chr5:46348999-46349000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs199942759	chr5:46349006-46349007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576282973	chr5:46349010-46349011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561179453	chr5:46349012-46349013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs561765037	chr5:46349018-46349019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369510736	chr5:46349020-46349021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368952134	chr5:46349036-46349037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373358018	chr5:46349040-46349041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs36019653	chr5:46349051-46349052	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547501492	chr5:46349086-46349087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564011746	chr5:46349100-46349101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs34101830	chr5:46349103-46349104	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46343200-46371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46343400-46370200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:46344200-46371400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46345400-46356200	Weak transcription	K562	blood
5	chr5:46347600-46350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:46350000-46350200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:46351600-46368400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr5:46352200-46353000	ZNF genes & repeats	HUVEC	blood vessel

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