Variant report

Variant	nsv880545
Chromosome Location	chr5:27997499-28134334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:28059133..28061539-chr5:28063046..28065805,2	K562	blood:
2	chr5:28078809..28081499-chr5:28083872..28086388,2	K562	blood:
3	chr5:28078809..28081499-chr5:28083872..28086388,2	K562	blood:
4	chr5:28059133..28061539-chr5:28063046..28065805,2	K562	blood:

Extended variants
information (count: 1004 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186408992	chr5:28001404-28001405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553011600	chr5:28001468-28001469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574772482	chr5:28001470-28001471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541803424	chr5:28001542-28001543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189650099	chr5:28001548-28001549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372095315	chr5:28001590-28001591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111317301	chr5:28009201-28009202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192249210	chr5:28009204-28009205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184038459	chr5:28009226-28009227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573678399	chr5:28009236-28009237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543933701	chr5:28009248-28009249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555297095	chr5:28009262-28009263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147010392	chr5:28009281-28009282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373835577	chr5:28009302-28009303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532736904	chr5:28009321-28009322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76637338	chr5:28009326-28009327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74513067	chr5:28009328-28009329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527629363	chr5:28009363-28009364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373192706	chr5:28009616-28009617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534271591	chr5:28009641-28009642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555909118	chr5:28009646-28009647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576661280	chr5:28009649-28009650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200866711	chr5:28009667-28009668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12153390	chr5:28009668-28009669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544421577	chr5:28009673-28009674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187434836	chr5:28009675-28009676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs36005567	chr5:28009679-28009680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544594252	chr5:28009684-28009685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559939757	chr5:28009706-28009707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527559918	chr5:28009724-28009725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375136503	chr5:28009769-28009770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559596749	chr5:28009866-28009867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192034748	chr5:28009869-28009870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377157238	chr5:28009876-28009877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369932348	chr5:28009912-28009913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143155280	chr5:28009914-28009915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531507015	chr5:28009984-28009985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528145998	chr5:28009986-28009987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114763926	chr5:28010014-28010015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10037041	chr5:28010060-28010061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551750379	chr5:28010104-28010105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148240767	chr5:28010119-28010120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142888927	chr5:28010146-28010147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146080926	chr5:28010148-28010149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567619341	chr5:28010201-28010202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187007022	chr5:28010229-28010230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554577927	chr5:28010238-28010239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548325897	chr5:28010267-28010268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556377797	chr5:28010391-28010392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577314055	chr5:28010432-28010433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28001400-28001600	Enhancers	Pancreas	Pancrea
2	chr5:28009200-28009400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:28009600-28010200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:28009600-28010200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:28009600-28011200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:28011400-28014200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:28012400-28015400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr5:28012600-28013400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr5:28013000-28013200	ZNF genes & repeats	Dnd41	blood
10	chr5:28022400-28022800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:28022400-28023600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:28033200-28033400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:28033200-28034000	Active TSS	A549	lung
14	chr5:28033400-28033800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:28033800-28034000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:28043200-28043600	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:28045600-28046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:28046200-28047600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:28046400-28047600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:28048800-28050000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:28060800-28061200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:28060800-28061800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:28066000-28067200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:28077800-28078000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:28083000-28084000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:28083200-28083400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:28083400-28084200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:28083600-28086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:28084200-28084400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:28084200-28084600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:28084400-28085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:28086200-28087200	Active TSS	A549	lung
33	chr5:28086600-28086800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:28110800-28111200	Active TSS	A549	lung
35	chr5:28110800-28111400	Enhancers	Fetal Stomach	stomach
36	chr5:28110800-28111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:28111600-28117200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:28117200-28118400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:28124400-28124800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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