Variant report

Variant	esv3450688
Chromosome Location	chr5:14647077-14649300
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14108776..14109307-chr5:14648451..14649059,2	K562	blood:
2	chr5:14366799..14367387-chr5:14648407..14648919,2	K562	blood:
3	chr5:13987663..13988894-chr5:14648405..14649724,6	K562	blood:
4	chr5:14398708..14399914-chr5:14648355..14649288,5	MCF-7	breast:
5	chr5:14352118..14352949-chr5:14648765..14649375,3	K562	blood:
6	chr5:14363978..14364976-chr5:14648837..14649345,2	MCF-7	breast:
7	chr5:13976771..13977506-chr5:14648421..14648943,2	MCF-7	breast:
8	chr5:14405228..14405866-chr5:14648409..14649049,2	MCF-7	breast:
9	chr5:14352294..14352920-chr5:14648683..14649276,2	MCF-7	breast:
10	chr5:14364046..14364977-chr5:14648428..14649312,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000038382	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs250862	chr5:14647079-14647080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76442763	chr5:14647083-14647084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139252171	chr5:14647093-14647094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3853119	chr5:14647108-14647109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs374065673	chr5:14647116-14647117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528693040	chr5:14647135-14647136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149993814	chr5:14647160-14647161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186998355	chr5:14647172-14647173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147845857	chr5:14647197-14647198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139797605	chr5:14647219-14647220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6898672	chr5:14647232-14647233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs251496	chr5:14647285-14647286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6872610	chr5:14647313-14647314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529692364	chr5:14647336-14647337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548010439	chr5:14647347-14647348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2455240	chr5:14647413-14647414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568152101	chr5:14647425-14647426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533841714	chr5:14647460-14647461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375154480	chr5:14647489-14647490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77150683	chr5:14647491-14647492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570617626	chr5:14647552-14647553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145206157	chr5:14647553-14647554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560522442	chr5:14647629-14647630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192346941	chr5:14647644-14647645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550604653	chr5:14647651-14647652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59980057	chr5:14647652-14647653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs536633549	chr5:14647676-14647677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554507178	chr5:14647698-14647699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182274445	chr5:14647711-14647712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186974101	chr5:14647745-14647746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs166127	chr5:14647782-14647783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149181	chr5:14647805-14647806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544627529	chr5:14647820-14647821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537867566	chr5:14647830-14647831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs152970	chr5:14647844-14647845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs529693182	chr5:14647852-14647853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533637431	chr5:14647885-14647886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548185969	chr5:14647902-14647903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138686158	chr5:14647923-14647924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71582450	chr5:14647925-14647926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111295358	chr5:14647934-14647935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201304157	chr5:14647935-14647936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142880041	chr5:14647939-14647940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377290624	chr5:14647940-14647941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201994971	chr5:14647942-14647943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34039543	chr5:14647943-14647944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77507188	chr5:14647952-14647953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs67250269	chr5:14648018-14648019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138089518	chr5:14648019-14648020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560141271	chr5:14648092-14648093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
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
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
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14646200-14648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:14647600-14649200	Enhancers	NHLF	lung
3	chr5:14648400-14648600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:14648400-14648800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr5:14648400-14648800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:14648400-14648800	Enhancers	HUVEC	blood vessel
7	chr5:14648600-14648800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:14648600-14648800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:14648600-14648800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:14648600-14648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:14648600-14648800	Enhancers	Primary T cells from cord blood	blood
12	chr5:14648600-14648800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:14648600-14648800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:14648600-14648800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:14648600-14648800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:14648600-14648800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:14648600-14648800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:14648600-14648800	Enhancers	Adipose Nuclei	Adipose
19	chr5:14648600-14648800	Enhancers	Brain Anterior Caudate	brain
20	chr5:14648600-14648800	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:14648600-14648800	Enhancers	Brain Hippocampus Middle	brain
22	chr5:14648600-14648800	Enhancers	Brain Substantia Nigra	brain
23	chr5:14648600-14648800	Enhancers	Colon Smooth Muscle	Colon
24	chr5:14648600-14648800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:14648600-14648800	Flanking Active TSS	Hela-S3	cervix
26	chr5:14648600-14649000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:14648800-14650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:14648800-14655200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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