Variant report

Variant	esv3440472
Chromosome Location	chr5:1650477-1653325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1651364..1654972-chr5:1656341..1659968,4	K562	blood:
2	chr5:1652097..1654972-chr5:1657057..1658557,2	K562	blood:
3	chr5:1648921..1651237-chr5:1656586..1659159,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143907200	chr5:1650485-1650486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542190339	chr5:1650495-1650496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563615668	chr5:1650514-1650515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531029221	chr5:1650531-1650532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147284918	chr5:1650587-1650588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564246038	chr5:1650608-1650609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376726437	chr5:1650613-1650614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184485339	chr5:1650656-1650657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148757825	chr5:1650660-1650661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374951542	chr5:1650664-1650665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368329124	chr5:1650737-1650738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142408478	chr5:1650738-1650739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546694203	chr5:1650753-1650754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568288626	chr5:1650755-1650756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189363132	chr5:1650787-1650788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151316925	chr5:1650806-1650807	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535634092	chr5:1650812-1650813	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569933339	chr5:1650858-1650859	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182209108	chr5:1650899-1650900	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185547734	chr5:1650912-1650913	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62335956	chr5:1650942-1650943	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534460281	chr5:1650980-1650981	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553014445	chr5:1650983-1650984	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374328612	chr5:1650986-1650987	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574373850	chr5:1650994-1650995	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531713990	chr5:1651034-1651035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188964315	chr5:1651078-1651079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77012685	chr5:1651079-1651080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139422904	chr5:1651081-1651082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62335957	chr5:1651198-1651199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564382672	chr5:1651210-1651211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181362322	chr5:1651211-1651212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144538890	chr5:1651284-1651285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201368461	chr5:1651296-1651297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562184200	chr5:1651318-1651319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529288450	chr5:1651320-1651321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568154725	chr5:1651337-1651338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550913411	chr5:1651383-1651384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569968273	chr5:1651452-1651453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537389337	chr5:1651470-1651471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112555154	chr5:1651496-1651497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540339726	chr5:1651567-1651568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372874314	chr5:1651570-1651571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534792481	chr5:1651579-1651580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200303537	chr5:1651587-1651588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115218804	chr5:1651599-1651600	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs13167287	chr5:1651602-1651603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574437984	chr5:1651656-1651657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535109636	chr5:1651666-1651667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556587419	chr5:1651677-1651678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1645800-1653000	Weak transcription	Spleen	Spleen
2	chr5:1650200-1651000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:1650800-1651000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:1652000-1652600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:1652000-1653200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:1652200-1652800	Enhancers	Dnd41	blood
7	chr5:1652200-1652800	Bivalent Enhancer	Hela-S3	cervix
8	chr5:1652200-1653200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:1652200-1653200	Enhancers	A549	lung
10	chr5:1652200-1653400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr5:1652400-1652800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr5:1652400-1653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:1652600-1652800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:1652600-1653600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:1652600-1655000	Enhancers	Primary B cells from cord blood	blood
16	chr5:1652800-1653000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:1652800-1653000	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr5:1652800-1653000	Bivalent Enhancer	Dnd41	blood
19	chr5:1652800-1653200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:1652800-1653400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:1652800-1653400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:1652800-1653400	Enhancers	Right Ventricle	heart
23	chr5:1652800-1653400	Bivalent Enhancer	NHLF	lung
24	chr5:1652800-1653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:1652800-1653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr5:1652800-1653800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr5:1652800-1654000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:1652800-1654000	Bivalent Enhancer	Colon Smooth Muscle	Colon
29	chr5:1652800-1654200	Bivalent Enhancer	Placenta	Placenta
30	chr5:1652800-1654200	Enhancers	Pancreas	Pancrea
31	chr5:1653000-1653200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr5:1653000-1653200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:1653000-1653200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr5:1653000-1653200	Flanking Bivalent TSS/Enh	Dnd41	blood
35	chr5:1653000-1653200	Bivalent Enhancer	GM12878-XiMat	blood
36	chr5:1653000-1653400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:1653000-1653600	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:1653000-1653600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr5:1653000-1653600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:1653000-1653600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr5:1653000-1653600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:1653000-1653800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr5:1653000-1653800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr5:1653000-1653800	Bivalent Enhancer	Fetal Lung	lung
45	chr5:1653000-1653800	Bivalent Enhancer	Fetal Thymus	thymus
46	chr5:1653000-1653800	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr5:1653000-1654000	Enhancers	Fetal Heart	heart
48	chr5:1653000-1654000	Bivalent Enhancer	Fetal Stomach	stomach
49	chr5:1653000-1654600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:1653000-1654600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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