Variant report

Variant	esv3396076
Chromosome Location	chr5:46381295-46385593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 602 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11957155	chr5:46381299-46381300	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201404350	chr5:46381306-46381307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112910323	chr5:46381313-46381314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370813848	chr5:46381319-46381320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542621412	chr5:46381325-46381326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62389498	chr5:46381326-46381327	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs200675060	chr5:46381350-46381351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11957104	chr5:46381357-46381358	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544809929	chr5:46381358-46381359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181195386	chr5:46381362-46381363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201324608	chr5:46381366-46381367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371578027	chr5:46381369-46381370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11957160	chr5:46381370-46381371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529919166	chr5:46381371-46381372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199933298	chr5:46381374-46381375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12657568	chr5:46381376-46381377	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112743068	chr5:46381400-46381401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554124101	chr5:46381402-46381403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551508516	chr5:46381403-46381404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571363123	chr5:46381413-46381414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200131190	chr5:46381414-46381415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113854770	chr5:46381424-46381425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537255054	chr5:46381429-46381430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202007338	chr5:46381441-46381442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574294412	chr5:46381450-46381451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566357083	chr5:46381453-46381454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553613467	chr5:46381454-46381455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184138646	chr5:46381458-46381459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143353789	chr5:46381459-46381460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564975646	chr5:46381463-46381464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370153013	chr5:46381464-46381465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112956225	chr5:46381480-46381481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188101753	chr5:46381481-46381482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560954190	chr5:46381482-46381483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180993292	chr5:46381492-46381493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113128496	chr5:46381502-46381503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114919762	chr5:46381503-46381504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140057369	chr5:46381507-46381508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375801815	chr5:46381508-46381509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186172280	chr5:46381511-46381512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571422429	chr5:46381516-46381517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530881632	chr5:46381527-46381528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111939055	chr5:46381543-46381544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567797890	chr5:46381545-46381546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62389499	chr5:46381549-46381550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200126717	chr5:46381553-46381554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191847550	chr5:46381577-46381578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567106557	chr5:46381611-46381612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538655166	chr5:46381682-46381683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544298637	chr5:46381683-46381684	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:43 , 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	chr5:46379600-46382200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:46379600-46382400	ZNF genes & repeats	Liver	Liver
8	chr5:46379800-46385400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:46380400-46381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:46380400-46381800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:46380400-46381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:46380400-46381800	Weak transcription	HUVEC	blood vessel
13	chr5:46380400-46385000	Weak transcription	K562	blood
14	chr5:46381000-46381800	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:46381000-46381800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:46381600-46385400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr5:46381800-46382000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:46381800-46382000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr5:46381800-46382000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:46381800-46382000	ZNF genes & repeats	Brain Angular Gyrus	brain
21	chr5:46381800-46382000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr5:46381800-46382000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr5:46381800-46382000	ZNF genes & repeats	Colon Smooth Muscle	Colon
24	chr5:46381800-46382000	ZNF genes & repeats	Left Ventricle	heart
25	chr5:46381800-46382000	ZNF genes & repeats	HUVEC	blood vessel
26	chr5:46381800-46382200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr5:46381800-46382200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr5:46381800-46382200	ZNF genes & repeats	NH-A	brain
29	chr5:46381800-46383400	ZNF genes & repeats	Fetal Brain Male	brain
30	chr5:46382000-46382400	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:46382000-46382600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:46382200-46383000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:46382200-46391600	Weak transcription	NH-A	brain
34	chr5:46382600-46384600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:46383000-46383200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr5:46384800-46385200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:46384800-46385200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr5:46384800-46385400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:46384800-46385400	ZNF genes & repeats	HUVEC	blood vessel
40	chr5:46385000-46385200	ZNF genes & repeats	Stomach Mucosa	stomach
41	chr5:46385000-46385200	Enhancers	K562	blood
42	chr5:46385000-46385400	ZNF genes & repeats	Left Ventricle	heart
43	chr5:46385400-46391600	Weak transcription	HUVEC	blood vessel

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