Variant report

Variant	esv1827099
Chromosome Location	chr5:1893659-1901309
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:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1891065..1892850-chr5:1899069..1900873,2	MCF-7	breast:
2	chr5:1889108..1891835-chr5:1894467..1896393,2	MCF-7	breast:
3	chr5:1891939..1894177-chr5:1904493..1906172,2	MCF-7	breast:
4	chr5:1888569..1892421-chr5:1897017..1899558,5	MCF-7	breast:
5	chr5:1887761..1890459-chr5:1897295..1899107,2	K562	blood:
6	chr5:1886018..1889904-chr5:1894024..1897247,4	MCF-7	breast:
7	chr5:1879733..1883410-chr5:1895321..1898945,3	MCF-7	breast:
8	chr5:1887761..1891597-chr5:1896215..1899107,3	K562	blood:
9	chr5:1899876..1901654-chr5:1903074..1905177,2	K562	blood:
10	chr5:1799936..1801867-chr5:1896753..1899712,3	MCF-7	breast:
11	chr5:1798468..1802495-chr5:1900039..1904193,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-4	chr5:1898159-1898233	XLOC_004249
2	lnc-NDUFS6-4	chr5:1898159-1898233	NR_109912
3	lnc-NDUFS6-4	chr5:1899156-1900607	XLOC_004249
4	lnc-NDUFS6-4	chr5:1899156-1900604	NR_109912

No data

Variant related genes	Relation type
ENSG00000113430	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000249326	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 390 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:390 , 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	rs368618964	chr5:1893674-1893675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533687968	chr5:1893720-1893721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545807930	chr5:1893721-1893722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147071480	chr5:1893722-1893723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192461745	chr5:1893726-1893727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13160679	chr5:1893727-1893728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574792283	chr5:1893749-1893750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141024881	chr5:1893750-1893751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528169077	chr5:1893767-1893768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560853756	chr5:1893789-1893790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182679551	chr5:1893822-1893823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546413697	chr5:1893843-1893844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564713352	chr5:1893892-1893893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150231160	chr5:1893916-1893917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532139508	chr5:1893921-1893922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547483379	chr5:1893928-1893929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12186763	chr5:1893960-1893961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529694512	chr5:1893982-1893983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548166933	chr5:1893983-1893984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570402339	chr5:1894008-1894009	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187986877	chr5:1894023-1894024	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138919488	chr5:1894058-1894059	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192366824	chr5:1894093-1894094	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534872881	chr5:1894099-1894100	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149442890	chr5:1894100-1894101	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558627214	chr5:1894106-1894107	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115222320	chr5:1894139-1894140	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556929735	chr5:1894147-1894148	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144597556	chr5:1894148-1894149	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376231971	chr5:1894178-1894179	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116270952	chr5:1894269-1894270	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56175854	chr5:1894312-1894313	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs35284271	chr5:1894406-1894407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576987448	chr5:1894414-1894415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79056980	chr5:1894420-1894421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs71602764	chr5:1894421-1894422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139221184	chr5:1894422-1894423	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs79244590	chr5:1894423-1894424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs398050303	chr5:1894424-1894425	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201517258	chr5:1894425-1894426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540821274	chr5:1894437-1894438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs138543208	chr5:1894452-1894453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115347747	chr5:1894478-1894479	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115264784	chr5:1894502-1894503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563253240	chr5:1894509-1894510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141610178	chr5:1894515-1894516	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184579524	chr5:1894553-1894554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571029784	chr5:1894566-1894567	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528691069	chr5:1894607-1894608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558108408	chr5:1894701-1894702	Weak transcription	Chromatin interactive region	2 gene(s)	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
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1884200-1898200	Weak transcription	Gastric	stomach
2	chr5:1891800-1895600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1894000-1894200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:1894200-1894400	Bivalent Enhancer	Hela-S3	cervix
5	chr5:1895400-1896200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:1895600-1895800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:1895600-1895800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:1895600-1896200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:1895600-1897000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr5:1895800-1896000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:1895800-1896200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:1895800-1896800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:1896000-1896400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr5:1896800-1897600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:1897000-1899000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:1897600-1897800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:1897600-1898000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:1897800-1898200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:1898200-1898400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:1898400-1899200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:1899000-1899400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:1899200-1899400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:1899400-1899600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr5:1900600-1900800	Enhancers	NHDF-Ad	bronchial
25	chr5:1900600-1902200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:1900800-1901600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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