Variant report

Variant	esv3451255
Chromosome Location	chr5:43539155-43541826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43482588..43484448-chr5:43537272..43539718,3	K562	blood:
2	chr5:43540433..43542729-chr5:43600683..43602719,2	K562	blood:
3	chr5:43530940..43532727-chr5:43538187..43541049,2	MCF-7	breast:
4	chr5:43539190..43540751-chr5:43541296..43543781,2	K562	blood:
5	chr5:43536689..43538647-chr5:43540263..43543098,2	K562	blood:
6	chr5:43541229..43543256-chr5:43600683..43602539,2	K562	blood:
7	chr5:43538445..43540709-chr5:43556299..43558790,2	MCF-7	breast:
8	chr5:43539190..43540751-chr5:43541296..43543781,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172239	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000249492	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576900626	chr5:43539322-43539323	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs545466855	chr5:43539333-43539334	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192350271	chr5:43539341-43539342	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182230666	chr5:43539349-43539350	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs199750871	chr5:43539377-43539378	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs78532222	chr5:43539379-43539380	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112514055	chr5:43539380-43539381	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs57580706	chr5:43539381-43539382	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541726158	chr5:43539428-43539429	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs562062743	chr5:43539465-43539466	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527583868	chr5:43539504-43539505	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs56008952	chr5:43539523-43539524	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs564300433	chr5:43539533-43539534	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs72341971	chr5:43539555-43539556	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12521301	chr5:43539556-43539557	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200220043	chr5:43539558-43539559	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs201737666	chr5:43539560-43539561	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs199672517	chr5:43539562-43539563	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs72290922	chr5:43539568-43539569	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs57839929	chr5:43539588-43539589	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs550264980	chr5:43539591-43539592	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs533250680	chr5:43539614-43539615	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112605576	chr5:43539653-43539654	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs60156165	chr5:43539678-43539679	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570270288	chr5:43539717-43539718	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528929241	chr5:43539768-43539769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570121267	chr5:43539775-43539776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9292885	chr5:43539784-43539785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367677896	chr5:43539848-43539849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200902727	chr5:43539856-43539857	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10058558	chr5:43539868-43539869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs566402064	chr5:43539945-43539946	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534987322	chr5:43539948-43539949	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371956697	chr5:43539949-43539950	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35556855	chr5:43539961-43539962	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567617242	chr5:43540000-43540001	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547393895	chr5:43540034-43540035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570083585	chr5:43540046-43540047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539158766	chr5:43540143-43540144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186469708	chr5:43540144-43540145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575730664	chr5:43540173-43540174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528187358	chr5:43540176-43540177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551033018	chr5:43540212-43540213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199591766	chr5:43540236-43540237	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535121266	chr5:43540240-43540241	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571306177	chr5:43540271-43540272	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35707409	chr5:43540282-43540283	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553576063	chr5:43540307-43540308	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149968744	chr5:43540414-43540415	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572330935	chr5:43540474-43540475	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	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	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:43523400-43551000	Strong transcription	Liver	Liver
6	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:43524000-43540200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:43524200-43539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:43525600-43541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:43527200-43543400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:43527200-43543400	Strong transcription	Adipose Nuclei	Adipose
23	chr5:43527200-43548200	Strong transcription	HUVEC	blood vessel
24	chr5:43527200-43550400	Strong transcription	Dnd41	blood
25	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:43527400-43552400	Strong transcription	Hela-S3	cervix
28	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:43527600-43539200	Strong transcription	K562	blood
30	chr5:43527600-43541000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:43527600-43541200	Strong transcription	NH-A	brain
32	chr5:43527600-43548800	Strong transcription	HSMM	muscle
33	chr5:43527600-43550400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:43527600-43550800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:43527600-43550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
39	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:43527800-43549000	Strong transcription	Osteobl	bone
41	chr5:43527800-43552400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:43528000-43539400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:43528000-43541200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:43530200-43552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:43532200-43540800	Strong transcription	HMEC	breast
47	chr5:43532200-43552200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr5:43532400-43548800	Strong transcription	Placenta	Placenta
49	chr5:43532800-43552400	Strong transcription	Fetal Intestine Large	intestine
50	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood

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