Variant report

Variant	esv3420746
Chromosome Location	chr5:2037777-2040325
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:2038644..2039215-chr5:2151129..2152096,3	K562	blood:
2	chr5:1772046..1773026-chr5:2038306..2039405,3	MCF-7	breast:
3	chr5:2038885..2040468-chr5:2043552..2045148,2	K562	blood:
4	chr5:2038305..2039189-chr5:4511874..4512776,3	MCF-7	breast:
5	chr5:2038456..2039644-chr5:2151099..2152060,8	MCF-7	breast:
6	chr10:16562709..16563518-chr5:2038579..2039403,2	MCF-7	breast:
7	chr5:1763381..1764606-chr5:2038413..2039439,5	MCF-7	breast:
8	chr5:1883446..1883946-chr5:2038442..2039397,2	K562	blood:
9	chr5:1667058..1667975-chr5:2038421..2039188,3	K562	blood:
10	chr5:2038968..2041290-chr5:2043648..2046348,2	K562	blood:
11	chr5:1976228..1977009-chr5:2038725..2039367,2	MCF-7	breast:
12	chr5:2028233..2030258-chr5:2037202..2038966,2	MCF-7	breast:
13	chr5:2038798..2040363-chr5:2040372..2041930,2	MCF-7	breast:
14	chr5:1667086..1668362-chr5:2038669..2039410,3	MCF-7	breast:
15	chr5:1763462..1764367-chr5:2038422..2039408,4	K562	blood:
16	chr5:2033165..2034764-chr5:2034966..2037818,2	K562	blood:
17	chr5:2038277..2039385-chr5:2150928..2152028,5	MCF-7	breast:
18	chr5:1975910..1976629-chr5:2038577..2039238,2	MCF-7	breast:
19	chr5:1763417..1764044-chr5:2038313..2038983,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231291	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147873908	chr5:2037807-2037808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200644589	chr5:2037811-2037812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72381205	chr5:2037812-2037813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570003985	chr5:2037844-2037845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186896620	chr5:2037845-2037846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551864757	chr5:2037849-2037850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570460665	chr5:2037901-2037902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138971295	chr5:2037930-2037931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116919113	chr5:2037978-2037979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189718765	chr5:2037979-2037980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557241093	chr5:2037985-2037986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575589999	chr5:2038026-2038027	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs539780669	chr5:2038044-2038045	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs373608349	chr5:2038049-2038050	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs182068584	chr5:2038051-2038052	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs577190641	chr5:2038055-2038056	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs541119932	chr5:2038078-2038079	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs559807190	chr5:2038122-2038123	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs75591896	chr5:2038132-2038133	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs75743164	chr5:2038172-2038173	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs186622835	chr5:2038211-2038212	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs531094352	chr5:2038216-2038217	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs193149800	chr5:2038293-2038294	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs200035964	chr5:2038353-2038354	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11336331	chr5:2038355-2038356	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74885459	chr5:2038361-2038362	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77684565	chr5:2038362-2038363	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74452153	chr5:2038472-2038473	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73732541	chr5:2038516-2038517	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546336146	chr5:2038529-2038530	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7703123	chr5:2038569-2038570	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374725432	chr5:2038594-2038595	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374192960	chr5:2038609-2038610	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535574444	chr5:2038639-2038640	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550782639	chr5:2038652-2038653	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116301277	chr5:2038699-2038700	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539715849	chr5:2038746-2038747	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs55866394	chr5:2038750-2038751	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577123881	chr5:2038780-2038781	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535009780	chr5:2038848-2038849	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7702363	chr5:2038855-2038856	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7722830	chr5:2038856-2038857	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541953371	chr5:2038864-2038865	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528353721	chr5:2038866-2038867	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575451512	chr5:2038870-2038871	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs57252786	chr5:2038871-2038872	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs4975808	chr5:2038882-2038883	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564808398	chr5:2038885-2038886	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528822870	chr5:2038911-2038912	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546555409	chr5:2038940-2038941	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Breast cancer	21364760	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2033800-2038400	Weak transcription	Pancreas	Pancrea
2	chr5:2035200-2038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:2037400-2038600	Weak transcription	Esophagus	oesophagus
4	chr5:2037800-2039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:2038000-2038200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr5:2038000-2038400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr5:2038200-2038400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:2038200-2038400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:2038200-2038400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:2038200-2038400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
11	chr5:2038200-2038400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr5:2038200-2038400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr5:2038200-2038400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:2038200-2038400	Enhancers	Adipose Nuclei	Adipose
15	chr5:2038200-2038400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:2038200-2038400	Enhancers	Right Ventricle	heart
17	chr5:2038200-2038400	Bivalent Enhancer	Dnd41	blood
18	chr5:2038200-2038400	Enhancers	HMEC	breast
19	chr5:2038200-2038400	Enhancers	NHEK	skin
20	chr5:2038200-2038800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:2038200-2038800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:2038200-2038800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:2038200-2038800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:2038200-2038800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:2038200-2039000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:2038200-2039000	Active TSS	Primary T cells from cord blood	blood
27	chr5:2038200-2039000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:2038200-2039000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
29	chr5:2038400-2038600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
31	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr5:2038400-2038600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:2038400-2038600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:2038400-2038600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:2038400-2038600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:2038400-2038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr5:2038400-2038600	Active TSS	Ovary	ovary
44	chr5:2038400-2038600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
45	chr5:2038400-2038600	Bivalent/Poised TSS	Thymus	Thymus
46	chr5:2038400-2038600	Flanking Active TSS	NHEK	skin
47	chr5:2038400-2038800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:2038400-2038800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:2038400-2038800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:2038400-2038800	Active TSS	H9 Cell Line	embryonic stem cell

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