Variant report

Variant	esv3514567
Chromosome Location	chr5:16148852-16151950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80051610	chr5:16148887-16148888	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533714278	chr5:16148944-16148945	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551765011	chr5:16148989-16148990	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116184854	chr5:16149013-16149014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115123517	chr5:16149077-16149078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187908773	chr5:16149098-16149099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541394853	chr5:16149102-16149103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567713349	chr5:16149141-16149142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111468525	chr5:16149149-16149150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112763026	chr5:16149153-16149154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577898706	chr5:16149158-16149159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79776709	chr5:16149212-16149213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143767234	chr5:16149236-16149237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575238776	chr5:16149250-16149251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568911063	chr5:16149293-16149294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147222690	chr5:16149381-16149382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530358738	chr5:16149382-16149383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140474215	chr5:16149503-16149504	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561486563	chr5:16149511-16149512	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117331146	chr5:16149513-16149514	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529994631	chr5:16149529-16149530	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559547353	chr5:16149538-16149539	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144410396	chr5:16149542-16149543	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373367887	chr5:16149559-16149560	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552092426	chr5:16149616-16149617	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs115899771	chr5:16149634-16149635	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs530936522	chr5:16149639-16149640	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs549368847	chr5:16149659-16149660	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs3910973	chr5:16149673-16149674	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs535158441	chr5:16149736-16149737	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs553483290	chr5:16149860-16149861	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs112520826	chr5:16149874-16149875	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs2591982	chr5:16149902-16149903	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148439125	chr5:16149915-16149916	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs575405173	chr5:16149925-16149926	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs4421104	chr5:16149926-16149927	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554175949	chr5:16149939-16149940	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs62350174	chr5:16149946-16149947	ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539982588	chr5:16150014-16150015	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4624790	chr5:16150021-16150022	ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578130494	chr5:16150038-16150039	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545223394	chr5:16150047-16150048	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564030426	chr5:16150062-16150063	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111565321	chr5:16150077-16150078	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549684508	chr5:16150098-16150099	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561295593	chr5:16150130-16150131	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370729529	chr5:16150149-16150150	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116662791	chr5:16150152-16150153	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547158972	chr5:16150199-16150200	ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142507569	chr5:16150250-16150251	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16140400-16149600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16146400-16149000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr5:16148600-16149000	Flanking Active TSS	Fetal Heart	heart
4	chr5:16149000-16149400	Enhancers	Fetal Heart	heart
5	chr5:16149400-16149600	Genic enhancers	Fetal Heart	heart
6	chr5:16149600-16150000	Transcr. at gene 5' and 3'	Fetal Heart	heart
7	chr5:16149600-16151200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:16150000-16150600	Genic enhancers	Fetal Heart	heart
9	chr5:16150200-16153200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:16150600-16151200	Enhancers	Fetal Heart	heart
11	chr5:16151200-16151400	Flanking Active TSS	Fetal Heart	heart
12	chr5:16151200-16154000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:16151400-16152000	Enhancers	Fetal Heart	heart

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