Variant report

Variant	esv2759319
Chromosome Location	chr5:5447098-5764620
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:109)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:5461351..5463473-chr5:5463699..5466479,2	MCF-7	breast:
2	chr19:2060401..2061330-chr5:5494671..5495442,2	MCF-7	breast:
3	chr5:5497229..5497886-chr5:6576751..6577654,2	MCF-7	breast:
4	chr5:5598174..5601240-chr5:5601251..5604925,4	K562	blood:
5	chr5:5740793..5741293-chr7:100550813..100551466,2	MCF-7	breast:
6	chr5:5438961..5442301-chr5:5442876..5448006,5	K562	blood:
7	chr5:5531394..5534374-chr5:5535145..5537717,2	K562	blood:
8	chr5:5421392..5423677-chr5:5466387..5469113,2	MCF-7	breast:
9	chr5:5643538..5645836-chr5:5656752..5659713,2	MCF-7	breast:
10	chr5:5450771..5453306-chr5:5456043..5458532,3	K562	blood:
11	chr5:5742449..5744011-chr5:5745830..5748673,2	K562	blood:
12	chr5:5472240..5473764-chr5:5482483..5484530,2	K562	blood:
13	chr5:5457336..5459419-chr5:5464980..5466965,2	MCF-7	breast:
14	chr5:5671215..5673289-chr5:5674552..5676413,2	K562	blood:
15	chr5:5503345..5507933-chr5:5508624..5513984,5	K562	blood:
16	chr5:5485902..5487652-chr5:5492681..5494252,2	K562	blood:
17	chr5:5484167..5485806-chr5:5486367..5488712,2	K562	blood:
18	chr5:5492168..5492979-chr5:5886820..5887455,2	K562	blood:
19	chr5:5557380..5560110-chr5:5562325..5564045,2	MCF-7	breast:
20	chr5:5503345..5507933-chr5:5508624..5513439,4	K562	blood:
21	chr5:5633637..5636069-chr5:5639786..5641876,2	K562	blood:
22	chr5:5481094..5482017-chr6:1551963..1552934,2	MCF-7	breast:
23	chr5:5597659..5599533-chr5:5606675..5608645,2	K562	blood:
24	chr5:5684088..5686741-chr5:5688588..5690353,2	K562	blood:
25	chr5:5481130..5482758-chr5:5483384..5486103,2	MCF-7	breast:
26	chr5:5737918..5739691-chr5:5740680..5742571,2	K562	blood:
27	chr5:5633637..5636069-chr5:5639786..5641876,2	K562	blood:
28	chr5:5647329..5649271-chr5:5651297..5654251,2	K562	blood:
29	chr5:5461351..5463473-chr5:5463699..5466479,2	MCF-7	breast:
30	chr5:5576350..5579017-chr5:5589220..5591369,2	K562	blood:
31	chr5:5702936..5705705-chr5:5707193..5708866,2	K562	blood:
32	chr5:5663207..5664772-chr5:5667196..5668796,2	K562	blood:
33	chr5:5628233..5630070-chr5:5633893..5637013,3	K562	blood:
34	chr5:5573897..5575784-chr5:5576123..5578301,2	K562	blood:
35	chr5:5531429..5533895-chr5:5542194..5543799,2	K562	blood:
36	chr5:5761068..5763903-chr5:5764162..5765700,2	K562	blood:
37	chr5:5497029..5497914-chr5:6525976..6526639,2	MCF-7	breast:
38	chr5:5671215..5673289-chr5:5674552..5676413,2	K562	blood:
39	chr5:5560140..5563103-chr5:5563381..5565728,2	K562	blood:
40	chr5:5485235..5487622-chr5:5487665..5490787,3	MCF-7	breast:
41	chr5:5462718..5464821-chr5:5467151..5469352,2	K562	blood:
42	chr5:5500541..5502455-chr5:5504529..5506444,2	K562	blood:
43	chr5:5702936..5705705-chr5:5707193..5708866,2	K562	blood:
44	chr5:5485902..5487652-chr5:5492681..5494252,2	K562	blood:
45	chr5:5451830..5454110-chr5:5465082..5467730,2	MCF-7	breast:
46	chr5:5497022..5497900-chr5:6745484..6746132,2	MCF-7	breast:
47	chr5:5587048..5591139-chr5:5592900..5595202,3	K562	blood:
48	chr5:5597659..5599533-chr5:5606675..5608645,2	K562	blood:
49	chr5:5573897..5575784-chr5:5576123..5578301,2	K562	blood:
50	chr5:5758071..5760209-chr5:5763625..5766465,2	K562	blood:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0947-1	chr5:5688789-5688967	XLOC_004270
2	lnc-KIAA0947-1	chr5:5693727-5693858	XLOC_004270
3	lnc-KIAA0947-1	chr5:5693727-5693858	XLOC_004270
4	lnc-KIAA0947-1	chr5:5694859-5694969	XLOC_004270
5	lnc-KIAA0947-1	chr5:5694139-5694840	XLOC_004270
6	lnc-KIAA0947-4	chr5:5747139-5747618	l_2860_chr5:5741510-5747618_heart
7	lnc-KIAA0947-1	chr5:5694138-5694618	NONHSAT100183
8	lnc-KIAA0947-1	chr5:5699273-5701975	XLOC_004270
9	lnc-KIAA0947-1	chr5:5693727-5693858	XLOC_004270
10	lnc-KIAA0947-4	chr5:5746727-5746858	l_2860_chr5:5741510-5747618_heart
11	lnc-KIAA0947-1	chr5:5688815-5688967	XLOC_004270
12	lnc-KIAA0947-2	chr5:5584434-5584471	NONHSAT100180
13	lnc-MED10-14	chr5:5517459-5517638	NONHSAT100179
14	lnc-MED10-14	chr5:5518754-5518840	NONHSAT100179
15	lnc-MED10-15	chr5:5474516-5475127	l_2859_chr5:5473863-5475127_heart
16	lnc-KIAA0947-4	chr5:5741789-5741967	l_2860_chr5:5741510-5747618_heart
17	lnc-KIAA0947-4	chr5:5741511-5741769	l_2860_chr5:5741510-5747618_heart
18	lnc-MED10-15	chr5:5473864-5473953	l_2859_chr5:5473863-5475127_heart
19	lnc-KIAA0947-2	chr5:5583421-5583777	NONHSAT100180
20	lnc-KIAA0947-1	chr5:5688788-5688967	NONHSAT100183
21	lnc-KIAA0947-1	chr5:5694139-5694618	XLOC_004270
22	lnc-KIAA0947-1	chr5:5688511-5688967	XLOC_004270
23	lnc-KIAA0947-1	chr5:5693726-5693858	NONHSAT100183
24	lnc-KIAA0947-1	chr5:5688511-5688657	XLOC_004270

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KIAA0947	hsa-miR-26b-5p	chr5:5489713-5489719
2	KIAA0947	hsa-miR-26b-5p	chr5:5489699-5489719

Variant related genes	Relation type
ENSG00000164151	chromatin interactions
ENSG00000169894	chromatin interactions
ENSG00000112941	chromatin interactions
PLXNA1	miRNA target sites
PLSCR4	miRNA target sites
PLS1	miRNA target sites

Extended variants
information (count: 12269 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:12269 , 50 per page) page: 1 2 3 4 5 6 7 ... 246

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527404545	chr5:5447118-5447119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553775680	chr5:5447127-5447128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547155816	chr5:5447139-5447140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567489151	chr5:5447154-5447155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578218904	chr5:5447202-5447203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550098955	chr5:5447208-5447209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572331724	chr5:5447230-5447231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188148199	chr5:5447239-5447240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36071432	chr5:5447244-5447245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79960169	chr5:5447295-5447296	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559011112	chr5:5447309-5447310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572444039	chr5:5447320-5447321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535151467	chr5:5447321-5447322	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147202970	chr5:5447323-5447324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575023118	chr5:5447328-5447329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148738272	chr5:5447364-5447365	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557092923	chr5:5447379-5447380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4702268	chr5:5447412-5447413	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142369754	chr5:5447417-5447418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151239153	chr5:5447444-5447445	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192734041	chr5:5447465-5447466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114873357	chr5:5447486-5447487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576434215	chr5:5447519-5447520	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377295152	chr5:5447527-5447528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560819906	chr5:5447570-5447571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4702269	chr5:5447607-5447608	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371453289	chr5:5447647-5447648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550014123	chr5:5447649-5447650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376598620	chr5:5447654-5447655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563442334	chr5:5447666-5447667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532474344	chr5:5447706-5447707	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552482144	chr5:5447731-5447732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139265538	chr5:5447736-5447737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150050195	chr5:5447741-5447742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548710763	chr5:5447760-5447761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185221481	chr5:5447777-5447778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568474928	chr5:5447804-5447805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373473386	chr5:5447846-5447847	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375479747	chr5:5447894-5447895	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573886463	chr5:5447906-5447907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537486298	chr5:5447911-5447912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115370580	chr5:5447921-5447922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577139318	chr5:5447932-5447933	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189046084	chr5:5447933-5447934	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201994032	chr5:5447939-5447940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376381068	chr5:5447951-5447952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371043981	chr5:5448019-5448020	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200637110	chr5:5448022-5448023	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113033939	chr5:5448086-5448087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540763988	chr5:5448122-5448123	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	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
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
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
Breast cancer	21364760	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:2480 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5430800-5460800	Weak transcription	Fetal Heart	heart
3	chr5:5433200-5456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:5433600-5447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:5433600-5455400	Weak transcription	Small Intestine	intestine
7	chr5:5434000-5460000	Weak transcription	Psoas Muscle	Psoas
8	chr5:5435000-5454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:5436600-5468400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:5436600-5470600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:5436600-5471400	Strong transcription	Hela-S3	cervix
12	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:5436800-5470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:5436800-5470600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:5437200-5470600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:5437400-5470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:5437600-5452600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:5437600-5470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:5437800-5470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:5438200-5447600	Weak transcription	Fetal Kidney	kidney
23	chr5:5439400-5451800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:5439600-5470600	Strong transcription	Dnd41	blood
25	chr5:5439800-5451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:5440000-5451200	Strong transcription	Fetal Intestine Large	intestine
27	chr5:5440000-5470600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:5440200-5450800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:5440200-5453400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:5440600-5456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:5440800-5450600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:5440800-5451000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:5440800-5460200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:5440800-5471600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:5441000-5448000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:5441000-5450400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:5441000-5451800	Strong transcription	Placenta	Placenta
38	chr5:5441200-5451200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:5441200-5468800	Strong transcription	Liver	Liver
40	chr5:5441400-5449800	Strong transcription	Fetal Lung	lung
41	chr5:5441400-5450400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr5:5441400-5450600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:5441400-5450800	Strong transcription	HSMMtube	muscle
44	chr5:5441400-5468400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:5441400-5468800	Strong transcription	Adipose Nuclei	Adipose
46	chr5:5441400-5469000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:5441400-5470400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:5441600-5450800	Strong transcription	Primary T cells from cord blood	blood
49	chr5:5441600-5451600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:5441600-5459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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