Variant report

Variant	esv2830150
Chromosome Location	chr5:16030905-16034232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:16033619-16033996	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr5:16033184-16035513	SK-N-SH	brain:	n/a	chr5:16033471-16033480
3	GATA3	chr5:16033576-16033706	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr5:16034177-16034203	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNA5SP178	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4701647	chr5:16030905-16030906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369375096	chr5:16030908-16030909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568079727	chr5:16030910-16030911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34005756	chr5:16030933-16030934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11433434	chr5:16030938-16030939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397727772	chr5:16030939-16030940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373312744	chr5:16030982-16030983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535563260	chr5:16030987-16030988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138029074	chr5:16030988-16030989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181624433	chr5:16031071-16031072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539662482	chr5:16031089-16031090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143392163	chr5:16031125-16031126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75519066	chr5:16031169-16031170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185797738	chr5:16031212-16031213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561736818	chr5:16031259-16031260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376316361	chr5:16031260-16031261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573546523	chr5:16031299-16031300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147140717	chr5:16031349-16031350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559536209	chr5:16031365-16031366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140980881	chr5:16031431-16031432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552771571	chr5:16031487-16031488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574204518	chr5:16031524-16031525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564500484	chr5:16031615-16031616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368824317	chr5:16031616-16031617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192021616	chr5:16031629-16031630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550167493	chr5:16031648-16031649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568118582	chr5:16031653-16031654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75163671	chr5:16031658-16031659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369154651	chr5:16031679-16031680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544371831	chr5:16031733-16031734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149441683	chr5:16031739-16031740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547379268	chr5:16031753-16031754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562603542	chr5:16031789-16031790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4702121	chr5:16031799-16031800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557956748	chr5:16031883-16031884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551334332	chr5:16031884-16031885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80210597	chr5:16031907-16031908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537357566	chr5:16031949-16031950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375215147	chr5:16031993-16031994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76132837	chr5:16032095-16032096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541067617	chr5:16032193-16032194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183945325	chr5:16032217-16032218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2166392	chr5:16032249-16032250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544749398	chr5:16032254-16032255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564712732	chr5:16032256-16032257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531765440	chr5:16032257-16032258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185978712	chr5:16032284-16032285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190884472	chr5:16032307-16032308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529530739	chr5:16032414-16032415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547417823	chr5:16032419-16032420	Weak transcription	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
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16026800-16033600	Weak transcription	Fetal Heart	heart
2	chr5:16033400-16035600	Enhancers	Adipose Nuclei	Adipose
3	chr5:16033600-16033800	Enhancers	Fetal Heart	heart
4	chr5:16033800-16034200	Enhancers	Brain Germinal Matrix	brain
5	chr5:16033800-16034200	Weak transcription	Fetal Heart	heart
6	chr5:16034000-16035200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:16034200-16035200	Enhancers	Fetal Heart	heart
8	chr5:16034200-16035400	Enhancers	Fetal Lung	lung

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