Variant report

Variant	esv3375698
Chromosome Location	chr5:1780852-1785050
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1771944..1774138-chr5:1779447..1781519,2	MCF-7	breast:
2	chr5:1771125..1773544-chr5:1782725..1784376,2	MCF-7	breast:
3	chr5:1778219..1779959-chr5:1780959..1783079,2	K562	blood:
4	chr5:1784823..1787433-chr5:1788783..1790988,2	MCF-7	breast:
5	chr5:1779811..1784236-chr5:1784390..1788657,7	K562	blood:
6	chr5:1777386..1781042-chr5:1781579..1783555,3	K562	blood:
7	chr5:1781121..1782702-chr5:1800158..1802452,2	K562	blood:
8	chr5:1780452..1785296-chr5:1786065..1791336,6	K562	blood:
9	chr5:1780211..1782754-chr5:1785123..1788035,2	MCF-7	breast:
10	chr5:1779811..1784236-chr5:1784390..1788657,7	K562	blood:
11	chr5:1769767..1771848-chr5:1781925..1784908,2	K562	blood:
12	chr5:1777386..1781042-chr5:1781579..1783555,3	K562	blood:
13	chr5:1783117..1786082-chr5:1787015..1788776,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145494	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552863899	chr5:1780880-1780881	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs556951702	chr5:1780898-1780899	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs11505118	chr5:1780936-1780937	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561175816	chr5:1780945-1780946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs192648665	chr5:1780971-1780972	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs543934946	chr5:1780987-1780988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs75540004	chr5:1781029-1781030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554125044	chr5:1781119-1781120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201224339	chr5:1781127-1781128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547431596	chr5:1781135-1781136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566771923	chr5:1781141-1781142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527554262	chr5:1781212-1781213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140897771	chr5:1781216-1781217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567509631	chr5:1781244-1781245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11505119	chr5:1781251-1781252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556230489	chr5:1781259-1781260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs114551647	chr5:1781262-1781263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538645341	chr5:1781271-1781272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112024239	chr5:1781325-1781326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571686035	chr5:1781482-1781483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs117093610	chr5:1781499-1781500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144795194	chr5:1781500-1781501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538503065	chr5:1781510-1781511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576276457	chr5:1781514-1781515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs427053	chr5:1781515-1781516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7449137	chr5:1781521-1781522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565385375	chr5:1781522-1781523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7444823	chr5:1781533-1781534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs200759987	chr5:1781534-1781535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201346760	chr5:1781545-1781546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs438203	chr5:1781591-1781592	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373126841	chr5:1781609-1781610	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541435638	chr5:1781613-1781614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs377139099	chr5:1781614-1781615	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199595705	chr5:1781636-1781637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs71577532	chr5:1781659-1781660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71577533	chr5:1781665-1781666	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559811657	chr5:1781678-1781679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113093985	chr5:1781689-1781690	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111900804	chr5:1781695-1781696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372879978	chr5:1781731-1781732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375881875	chr5:1781749-1781750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201080686	chr5:1781762-1781763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs70957391	chr5:1781801-1781802	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111937712	chr5:1781802-1781803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs374523749	chr5:1781803-1781804	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113537410	chr5:1781815-1781816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112855212	chr5:1781832-1781833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs1213135	chr5:1781839-1781840	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1213136	chr5:1781845-1781846	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1772400-1788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1777800-1784400	Weak transcription	Right Atrium	heart
3	chr5:1779600-1782800	Weak transcription	Pancreas	Pancrea
4	chr5:1780000-1781400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:1780000-1782400	Enhancers	Fetal Heart	heart
6	chr5:1780200-1781400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:1780400-1781200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:1780600-1782800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:1780800-1781000	Bivalent Enhancer	Fetal Kidney	kidney
10	chr5:1780800-1782200	Weak transcription	Right Ventricle	heart
11	chr5:1781400-1781600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:1781400-1782200	Enhancers	Spleen	Spleen
13	chr5:1781600-1782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:1781800-1782000	Enhancers	GM12878-XiMat	blood
15	chr5:1781800-1782400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:1782000-1782200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:1782000-1783800	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:1782000-1784600	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:1782200-1782400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr5:1782200-1782400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:1782200-1783400	Enhancers	Right Ventricle	heart
22	chr5:1782200-1783800	Enhancers	Fetal Thymus	thymus
23	chr5:1782200-1784400	Weak transcription	Spleen	Spleen
24	chr5:1782400-1783200	Flanking Active TSS	Fetal Heart	heart
25	chr5:1782400-1785000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:1782600-1783000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:1782800-1783000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:1782800-1783000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:1782800-1783000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr5:1782800-1783000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
31	chr5:1782800-1783000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
32	chr5:1782800-1783200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:1782800-1783200	Enhancers	Fetal Brain Female	brain
34	chr5:1782800-1783200	Enhancers	Pancreas	Pancrea
35	chr5:1782800-1783400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:1782800-1783400	Bivalent Enhancer	K562	blood
37	chr5:1782800-1786600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:1783000-1783200	Bivalent Enhancer	NH-A	brain
39	chr5:1783000-1783400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:1783000-1783400	Enhancers	Fetal Brain Male	brain
41	chr5:1783000-1787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:1783200-1783400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:1783200-1783600	Enhancers	Fetal Muscle Trunk	muscle
44	chr5:1783200-1783600	Enhancers	NH-A	brain
45	chr5:1783200-1783800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr5:1783200-1784800	Enhancers	Fetal Heart	heart
47	chr5:1783600-1789000	Weak transcription	NH-A	brain
48	chr5:1783800-1784200	Weak transcription	Fetal Thymus	thymus
49	chr5:1783800-1786200	Enhancers	GM12878-XiMat	blood
50	chr5:1784000-1786200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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