Variant report

Variant	nsv471739
Chromosome Location	chr5:16889000-16891718
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	chr5:16883385..16886348-chr5:16888269..16889832,2	MCF-7	breast:
2	chr5:16889896..16891500-chr5:16935094..16936823,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144278435	chr5:16889044-16889045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35678825	chr5:16889073-16889074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536635564	chr5:16889097-16889098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543174162	chr5:16889127-16889128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560589114	chr5:16889144-16889145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527907944	chr5:16889174-16889175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12513932	chr5:16889175-16889176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs55952812	chr5:16889186-16889187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143540730	chr5:16889196-16889197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10035649	chr5:16889201-16889202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568148610	chr5:16889214-16889215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10044720	chr5:16889296-16889297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367751145	chr5:16889298-16889299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28642119	chr5:16889306-16889307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28523838	chr5:16889307-16889308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34138785	chr5:16889315-16889316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59575657	chr5:16889316-16889317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199609081	chr5:16889317-16889318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146790734	chr5:16889324-16889325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572197270	chr5:16889386-16889387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539632701	chr5:16889391-16889392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192367282	chr5:16889392-16889393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576303221	chr5:16889443-16889444	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543572596	chr5:16889455-16889456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183655659	chr5:16889464-16889465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs13160970	chr5:16889467-16889468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549226118	chr5:16889486-16889487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs28696289	chr5:16889514-16889515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538888210	chr5:16889541-16889542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540642372	chr5:16889569-16889570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560843045	chr5:16889570-16889571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10068939	chr5:16889576-16889577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75996849	chr5:16889587-16889588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571793418	chr5:16889588-16889589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528015271	chr5:16889607-16889608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10068948	chr5:16889608-16889609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546473451	chr5:16889612-16889613	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201746767	chr5:16889615-16889616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564366761	chr5:16889640-16889641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531772157	chr5:16889646-16889647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2625169	chr5:16889660-16889661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149120021	chr5:16889668-16889669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529250338	chr5:16889762-16889763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs571748330	chr5:16889825-16889826	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143172444	chr5:16889828-16889829	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543679369	chr5:16889844-16889845	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2562341	chr5:16889887-16889888	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554176337	chr5:16889908-16889909	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs61420593	chr5:16889915-16889916	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569903201	chr5:16889923-16889924	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
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
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16867600-16889000	Weak transcription	Spleen	Spleen
2	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
3	chr5:16875600-16889000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:16877400-16889000	Weak transcription	Fetal Stomach	stomach
5	chr5:16877800-16889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:16878200-16893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:16881000-16889800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:16881800-16889000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:16881800-16889000	Weak transcription	Fetal Kidney	kidney
11	chr5:16881800-16889400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:16881800-16889800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:16882000-16894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:16882400-16889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:16882600-16889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:16883400-16889400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:16884400-16894800	Weak transcription	Psoas Muscle	Psoas
19	chr5:16885200-16889800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:16885200-16891000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:16885400-16894200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:16885600-16889000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:16886000-16892400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:16886000-16893600	Weak transcription	Colonic Mucosa	Colon
25	chr5:16886200-16889600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:16886200-16889800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:16886200-16894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:16886400-16889800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:16886400-16890800	Enhancers	HSMMtube	muscle
30	chr5:16886400-16891400	Weak transcription	Aorta	Aorta
31	chr5:16886600-16889000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:16886600-16889600	Enhancers	A549	lung
33	chr5:16886600-16889600	Enhancers	Hela-S3	cervix
34	chr5:16886600-16890600	Enhancers	Osteobl	bone
35	chr5:16886800-16889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:16886800-16889800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:16887200-16894000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:16887400-16889000	Weak transcription	Left Ventricle	heart
39	chr5:16887400-16889400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:16887400-16889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:16887400-16889600	Weak transcription	NHLF	lung
42	chr5:16887400-16891200	Enhancers	NHDF-Ad	bronchial
43	chr5:16887400-16894200	Weak transcription	Placenta	Placenta
44	chr5:16887600-16889000	Weak transcription	HSMM	muscle
45	chr5:16887600-16894200	Weak transcription	Adipose Nuclei	Adipose
46	chr5:16887800-16890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:16888000-16889600	Enhancers	Lung	lung
48	chr5:16888000-16889800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:16888000-16891800	Enhancers	Fetal Muscle Leg	muscle
50	chr5:16888200-16889000	Weak transcription	Fetal Lung	lung

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