Variant report

Variant	esv1825549
Chromosome Location	chr5:16006008-16031799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16001947..16004680-chr5:16004715..16007542,2	K562	blood:

Extended variants
information (count: 984 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:984 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374586765	chr5:16006008-16006009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562209030	chr5:16006084-16006085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529303460	chr5:16006107-16006108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541138670	chr5:16006125-16006126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559090615	chr5:16006129-16006130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs32828	chr5:16006130-16006131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs137892883	chr5:16006146-16006147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149024502	chr5:16006181-16006182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79556344	chr5:16006185-16006186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112881275	chr5:16006239-16006240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186002199	chr5:16006293-16006294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189596794	chr5:16006402-16006403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76186425	chr5:16006403-16006404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553768605	chr5:16006416-16006417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567278162	chr5:16006436-16006437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34093428	chr5:16006450-16006451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373764015	chr5:16006465-16006466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534669525	chr5:16006499-16006500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565957710	chr5:16006557-16006558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553126150	chr5:16006572-16006573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181811098	chr5:16006602-16006603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572102839	chr5:16006681-16006682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200264063	chr5:16006694-16006695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369631527	chr5:16006697-16006698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58961072	chr5:16006700-16006701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201502196	chr5:16006703-16006704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199725823	chr5:16006704-16006705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540904262	chr5:16006706-16006707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60515378	chr5:16006711-16006712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148364850	chr5:16006722-16006723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562412823	chr5:16006744-16006745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544100381	chr5:16006776-16006777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs32829	chr5:16006786-16006787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573714644	chr5:16006828-16006829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142256040	chr5:16006832-16006833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544435041	chr5:16006834-16006835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117771437	chr5:16006839-16006840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185391512	chr5:16006844-16006845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77989085	chr5:16006864-16006865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189651090	chr5:16006916-16006917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371583711	chr5:16006931-16006932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548728853	chr5:16006939-16006940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544919493	chr5:16006990-16006991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563499923	chr5:16007017-16007018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563122265	chr5:16007047-16007048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533236859	chr5:16007086-16007087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28552791	chr5:16007138-16007139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73753935	chr5:16007139-16007140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528120146	chr5:16007151-16007152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546703427	chr5:16007195-16007196	Enhancers 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16005200-16007400	Enhancers	Fetal Heart	heart
2	chr5:16006000-16006400	Enhancers	Left Ventricle	heart
3	chr5:16006400-16007800	Weak transcription	Left Ventricle	heart
4	chr5:16007400-16008200	Flanking Active TSS	Fetal Heart	heart
5	chr5:16007800-16008200	Enhancers	Left Ventricle	heart
6	chr5:16008200-16008600	Enhancers	Fetal Heart	heart
7	chr5:16008600-16009000	Flanking Active TSS	Fetal Heart	heart
8	chr5:16009000-16009200	Enhancers	Fetal Heart	heart
9	chr5:16009200-16009600	Weak transcription	Fetal Heart	heart
10	chr5:16009600-16010200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:16009600-16010400	ZNF genes & repeats	Fetal Heart	heart
12	chr5:16010400-16011400	Active TSS	Fetal Heart	heart
13	chr5:16011400-16013000	Weak transcription	Fetal Heart	heart
14	chr5:16012400-16012800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:16012800-16013200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:16013000-16013800	Enhancers	Fetal Heart	heart
17	chr5:16013200-16014400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:16013800-16020400	Weak transcription	Fetal Heart	heart
19	chr5:16014000-16014600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:16014400-16014600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:16014600-16015600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:16019000-16019400	Enhancers	Dnd41	blood
23	chr5:16020400-16020800	Enhancers	Fetal Heart	heart
24	chr5:16020800-16021800	Weak transcription	Fetal Heart	heart
25	chr5:16021400-16022000	Enhancers	Adipose Nuclei	Adipose
26	chr5:16021800-16022400	Enhancers	Fetal Heart	heart
27	chr5:16022000-16025800	Weak transcription	Adipose Nuclei	Adipose
28	chr5:16022400-16025400	Weak transcription	Fetal Heart	heart
29	chr5:16025400-16026800	Enhancers	Fetal Heart	heart
30	chr5:16025600-16026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:16025800-16026200	Enhancers	Adipose Nuclei	Adipose
32	chr5:16026000-16026600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:16026800-16033600	Weak transcription	Fetal Heart	heart

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