Variant report

Variant	esv1808533
Chromosome Location	chr5:57312154-57333508
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
2	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
3	chr17:37617529..37618214-chr5:57312142..57313016,2	Hela-S3	cervix:
4	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
5	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
6	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
7	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
8	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
9	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167258	chromatin interactions
ENSG00000145632	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1349956	chr5:57312154-57312155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534713391	chr5:57312164-57312165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552984199	chr5:57312182-57312183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2898076	chr5:57312214-57312215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573635103	chr5:57312219-57312220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568094237	chr5:57312246-57312247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192334505	chr5:57312285-57312286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535602297	chr5:57312289-57312290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557419864	chr5:57312300-57312301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575360351	chr5:57312301-57312302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs5868086	chr5:57312307-57312308	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs33953523	chr5:57312308-57312309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539590304	chr5:57312311-57312312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113047459	chr5:57312321-57312322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573206170	chr5:57312322-57312323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144813482	chr5:57312379-57312380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561713073	chr5:57312380-57312381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542626819	chr5:57312446-57312447	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573670322	chr5:57312451-57312452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147975779	chr5:57312474-57312475	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562555746	chr5:57312510-57312511	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1454917	chr5:57312513-57312514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529745600	chr5:57312532-57312533	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540681216	chr5:57312533-57312534	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184669915	chr5:57312572-57312573	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549684800	chr5:57312577-57312578	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540324219	chr5:57312589-57312590	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559343542	chr5:57312610-57312611	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs73098883	chr5:57312614-57312615	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117414863	chr5:57312622-57312623	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546888529	chr5:57312641-57312642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568159044	chr5:57312672-57312673	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1454918	chr5:57312691-57312692	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550815990	chr5:57312753-57312754	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141863427	chr5:57312836-57312837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142955588	chr5:57312837-57312838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs151041396	chr5:57312862-57312863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573071937	chr5:57312916-57312917	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534122191	chr5:57312946-57312947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555659146	chr5:57312973-57312974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs10037327	chr5:57312976-57312977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544168716	chr5:57312998-57312999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140919281	chr5:57313017-57313018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182033644	chr5:57313108-57313109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150225802	chr5:57313113-57313114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528655205	chr5:57313156-57313157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546900745	chr5:57313171-57313172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562000273	chr5:57313202-57313203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1489795	chr5:57313235-57313236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550985269	chr5:57313272-57313273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57302600-57315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57307200-57312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:57309600-57314400	Weak transcription	Fetal Heart	heart
4	chr5:57310800-57312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:57311200-57312400	Enhancers	Hela-S3	cervix
6	chr5:57311400-57312200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:57311400-57315400	Weak transcription	Left Ventricle	heart
8	chr5:57311800-57312600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:57311800-57312800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:57311800-57312800	Enhancers	HSMM	muscle
11	chr5:57311800-57313000	Enhancers	HMEC	breast
12	chr5:57311800-57313200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:57311800-57314200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:57312000-57313000	Enhancers	HSMMtube	muscle
16	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
18	chr5:57312200-57313000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:57312200-57313000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:57312200-57313200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:57312400-57312600	Enhancers	Fetal Muscle Leg	muscle
22	chr5:57312400-57312600	Enhancers	Psoas Muscle	Psoas
23	chr5:57312400-57312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:57312400-57312800	Enhancers	Placenta	Placenta
25	chr5:57312400-57312800	Flanking Active TSS	Hela-S3	cervix
26	chr5:57312400-57313000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:57312400-57313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:57312400-57313600	Enhancers	Brain Germinal Matrix	brain
29	chr5:57312600-57313000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:57312600-57315400	Weak transcription	Psoas Muscle	Psoas
31	chr5:57312800-57313800	Enhancers	Fetal Lung	lung
32	chr5:57312800-57316200	Enhancers	Hela-S3	cervix
33	chr5:57312800-57317000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:57312800-57317200	Weak transcription	Placenta	Placenta
35	chr5:57313200-57314600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:57313800-57314600	Weak transcription	Fetal Lung	lung
37	chr5:57314000-57314200	Enhancers	Spleen	Spleen
38	chr5:57314200-57315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:57314400-57314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:57314400-57316000	Weak transcription	Spleen	Spleen
41	chr5:57314400-57316200	Enhancers	Fetal Heart	heart
42	chr5:57314400-57316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:57314600-57315000	Enhancers	Fetal Lung	lung
44	chr5:57314600-57315200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:57314600-57316400	Enhancers	HUVEC	blood vessel
46	chr5:57314800-57316200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:57314800-57316600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:57315000-57315200	Weak transcription	Fetal Lung	lung
49	chr5:57315200-57315400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:57315200-57316000	Enhancers	Fetal Lung	lung

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