Variant report

Variant	esv4509
Chromosome Location	chr5:46380790-46382114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543036233	chr5:46380790-46380791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562976142	chr5:46380796-46380797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111770825	chr5:46380799-46380800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62389497	chr5:46380808-46380809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183920529	chr5:46380820-46380821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549104549	chr5:46380822-46380823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565633496	chr5:46380826-46380827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202185166	chr5:46380827-46380828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544257860	chr5:46380832-46380833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551245054	chr5:46380834-46380835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200441657	chr5:46380836-46380837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537313453	chr5:46380842-46380843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201701477	chr5:46380844-46380845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199763667	chr5:46380857-46380858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570098160	chr5:46380858-46380859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111557374	chr5:46380870-46380871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535471063	chr5:46380877-46380878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8185233	chr5:46380904-46380905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111615391	chr5:46380906-46380907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572409497	chr5:46380907-46380908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541629180	chr5:46380912-46380913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530025569	chr5:46380917-46380918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76469027	chr5:46380933-46380934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201630763	chr5:46380937-46380938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2674714	chr5:46380945-46380946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113694284	chr5:46380961-46380962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185598928	chr5:46380965-46380966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76868479	chr5:46380966-46380967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113171171	chr5:46380970-46380971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141467555	chr5:46380979-46380980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148810807	chr5:46380991-46380992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143689947	chr5:46380993-46380994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74701540	chr5:46380997-46380998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111975843	chr5:46381007-46381008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113963323	chr5:46381009-46381010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543743334	chr5:46381011-46381012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148647427	chr5:46381015-46381016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201671309	chr5:46381022-46381023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72766108	chr5:46381053-46381054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542210664	chr5:46381056-46381057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559406086	chr5:46381063-46381064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528137563	chr5:46381066-46381067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140535148	chr5:46381078-46381079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201454275	chr5:46381084-46381085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571495515	chr5:46381086-46381087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530709024	chr5:46381090-46381091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560306565	chr5:46381091-46381092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567561740	chr5:46381095-46381096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200039276	chr5:46381101-46381102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200983992	chr5:46381109-46381110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Medulloblastoma	21163964	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46377600-46383400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr5:46377600-46383800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr5:46377600-46385200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46377600-46385400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:46377800-46381800	Weak transcription	NH-A	brain
6	chr5:46378600-46381000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr5:46379600-46382200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:46379600-46382400	ZNF genes & repeats	Liver	Liver
9	chr5:46379800-46385400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:46380000-46381000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr5:46380000-46381000	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr5:46380000-46381000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr5:46380400-46381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:46380400-46381800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:46380400-46381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:46380400-46381800	Weak transcription	HUVEC	blood vessel
17	chr5:46380400-46385000	Weak transcription	K562	blood
18	chr5:46381000-46381800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:46381000-46381800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:46381600-46385400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr5:46381800-46382000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:46381800-46382000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr5:46381800-46382000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:46381800-46382000	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr5:46381800-46382000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr5:46381800-46382000	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr5:46381800-46382000	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr5:46381800-46382000	ZNF genes & repeats	Left Ventricle	heart
29	chr5:46381800-46382000	ZNF genes & repeats	HUVEC	blood vessel
30	chr5:46381800-46382200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr5:46381800-46382200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr5:46381800-46382200	ZNF genes & repeats	NH-A	brain
33	chr5:46381800-46383400	ZNF genes & repeats	Fetal Brain Male	brain
34	chr5:46382000-46382400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:46382000-46382600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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