Variant report

Variant	nsv516145
Chromosome Location	chr5:16673685-16679966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16679346..16680168-chr5:17203570..17204157,2	MCF-7	breast:
2	chr5:16588416..16589500-chr5:16674631..16675555,5	MCF-7	breast:
3	chr5:16679668..16680619-chr5:16776494..16777357,4	MCF-7	breast:
4	chr5:16670338..16672249-chr5:16672358..16674195,2	MCF-7	breast:
5	chr5:16588605..16589500-chr5:16674971..16675555,2	MCF-7	breast:
6	chr1:9356327..9359278-chr5:16672338..16674681,2	MCF-7	breast:

Extended variants
information (count: 342 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs26745	chr5:16673685-16673686	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200347071	chr5:16673700-16673701	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575040518	chr5:16673716-16673717	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542491333	chr5:16673727-16673728	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78992158	chr5:16673732-16673733	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189068575	chr5:16673775-16673776	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545857915	chr5:16673776-16673777	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375905177	chr5:16673785-16673786	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3188408	chr5:16673800-16673801	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531604162	chr5:16673838-16673839	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374259243	chr5:16673839-16673840	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377410851	chr5:16673848-16673849	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561692106	chr5:16673854-16673855	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370804744	chr5:16673879-16673880	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375400478	chr5:16673897-16673898	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368708280	chr5:16673906-16673907	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369279634	chr5:16673917-16673918	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374960752	chr5:16673944-16673945	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547603553	chr5:16673955-16673956	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367946923	chr5:16673956-16673957	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3892700	chr5:16673959-16673960	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs25901	chr5:16673975-16673976	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369630079	chr5:16674006-16674007	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368591680	chr5:16674015-16674016	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181513304	chr5:16674037-16674038	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376649692	chr5:16674045-16674046	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115887664	chr5:16674048-16674049	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537047182	chr5:16674093-16674094	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550140229	chr5:16674096-16674097	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138606297	chr5:16674123-16674124	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371726993	chr5:16674131-16674132	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184868520	chr5:16674139-16674140	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76550240	chr5:16674149-16674150	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189133531	chr5:16674205-16674206	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374540559	chr5:16674210-16674211	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368096977	chr5:16674303-16674304	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554374576	chr5:16674306-16674307	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532253376	chr5:16674324-16674325	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180885322	chr5:16674328-16674329	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546236433	chr5:16674343-16674344	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557972043	chr5:16674358-16674359	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185938453	chr5:16674375-16674376	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543450286	chr5:16674394-16674395	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547224619	chr5:16674395-16674396	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569702160	chr5:16674423-16674424	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561633705	chr5:16674432-16674433	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141505470	chr5:16674483-16674484	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113422781	chr5:16674507-16674508	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs27350	chr5:16674520-16674521	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532993230	chr5:16674539-16674540	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661600-16689400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:16663000-16674800	Weak transcription	Aorta	Aorta
4	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:16663400-16676600	Strong transcription	A549	lung
6	chr5:16663600-16695400	Strong transcription	Fetal Intestine Small	intestine
7	chr5:16663800-16676600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr5:16663800-16690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:16663800-16694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:16664000-16676800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
15	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:16664600-16690600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:16664800-16674600	Weak transcription	Small Intestine	intestine
21	chr5:16664800-16677600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr5:16665600-16676800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:16666200-16676800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:16666200-16680600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:16667200-16674800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:16667400-16683600	Weak transcription	Liver	Liver
28	chr5:16667600-16673800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:16667600-16676600	Strong transcription	HSMMtube	muscle
30	chr5:16667800-16674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:16667800-16674800	Weak transcription	Stomach Mucosa	stomach
32	chr5:16667800-16675000	Weak transcription	Left Ventricle	heart
33	chr5:16667800-16676400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:16667800-16677400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr5:16667800-16680000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
37	chr5:16668000-16676000	Strong transcription	Brain Hippocampus Middle	brain
38	chr5:16668200-16676400	Strong transcription	Placenta	Placenta
39	chr5:16669800-16676200	Strong transcription	HSMM	muscle
40	chr5:16670000-16674200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:16670200-16673800	Strong transcription	Brain Substantia Nigra	brain
42	chr5:16670200-16674000	Strong transcription	HMEC	breast
43	chr5:16670200-16676400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:16670200-16676800	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:16670200-16678000	Weak transcription	Fetal Heart	heart
46	chr5:16670400-16676000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:16670400-16676200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr5:16670400-16676400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:16670400-16677200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:16670600-16673800	Strong transcription	Colonic Mucosa	Colon

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