Variant report

Variant	esv3355791
Chromosome Location	chr5:1869502-1872800
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1861297..1869696-chr5:1879554..1886808,27	MCF-7	breast:
2	chr5:1798305..1801067-chr5:1869519..1871055,2	MCF-7	breast:
3	chr5:1864844..1866657-chr5:1871422..1873236,2	MCF-7	breast:
4	chr5:1799200..1802760-chr5:1865091..1870537,7	MCF-7	breast:
5	chr5:1864379..1866882-chr5:1868462..1869991,2	MCF-7	breast:
6	chr5:1870945..1873659-chr5:1908651..1910521,2	K562	blood:
7	chr5:1858296..1860407-chr5:1867907..1869801,2	K562	blood:
8	chr5:1831073..1835336-chr5:1866302..1869597,4	MCF-7	breast:
9	chr5:1863691..1867065-chr5:1867845..1871510,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145494	chromatin interactions
ENSG00000113430	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000249116	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:234 , 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	rs568901882	chr5:1869506-1869507	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs572870293	chr5:1869528-1869529	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs372880621	chr5:1869543-1869544	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs573598705	chr5:1869556-1869557	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs534178118	chr5:1869567-1869568	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs555933935	chr5:1869572-1869573	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs375154575	chr5:1869583-1869584	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs544738334	chr5:1869584-1869585	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs558587654	chr5:1869592-1869593	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs386684488	chr5:1869609-1869610	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs374331281	chr5:1869611-1869612	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs2450480	chr5:1869620-1869621	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372733188	chr5:1869662-1869663	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs181124606	chr5:1869713-1869714	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546569237	chr5:1869776-1869777	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113375753	chr5:1869803-1869804	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567483612	chr5:1869805-1869806	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561964629	chr5:1869816-1869817	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529059336	chr5:1869837-1869838	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534748579	chr5:1869863-1869864	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367747304	chr5:1869878-1869879	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568991725	chr5:1869903-1869904	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533872836	chr5:1869905-1869906	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs551397906	chr5:1869911-1869912	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566432251	chr5:1869925-1869926	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375040450	chr5:1869957-1869958	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186320555	chr5:1870029-1870030	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553599908	chr5:1870044-1870045	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs72306624	chr5:1870121-1870122	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs36130473	chr5:1870126-1870127	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201192437	chr5:1870132-1870133	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75873022	chr5:1870135-1870136	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs432374	chr5:1870153-1870154	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371181095	chr5:1870155-1870156	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs538038550	chr5:1870159-1870160	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201647780	chr5:1870168-1870169	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10641049	chr5:1870177-1870178	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs36087985	chr5:1870178-1870179	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34085029	chr5:1870180-1870181	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75338125	chr5:1870181-1870182	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556303519	chr5:1870202-1870203	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200913920	chr5:1870203-1870204	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs78590307	chr5:1870205-1870206	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140598776	chr5:1870215-1870216	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150070248	chr5:1870216-1870217	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs202187254	chr5:1870221-1870222	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200304006	chr5:1870223-1870224	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369223806	chr5:1870228-1870229	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545060973	chr5:1870240-1870241	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553790267	chr5:1870246-1870247	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1854000-1872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1856000-1875400	Weak transcription	Right Atrium	heart
3	chr5:1867600-1870000	Weak transcription	Pancreas	Pancrea
4	chr5:1868600-1870200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:1868800-1870000	Bivalent Enhancer	Fetal Intestine Small	intestine
6	chr5:1869000-1870200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:1869200-1870400	Enhancers	Fetal Heart	heart
8	chr5:1870000-1870600	ZNF genes & repeats	Pancreas	Pancrea
9	chr5:1870000-1870800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:1870000-1871400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:1870200-1870600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:1870200-1870600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:1870200-1870800	ZNF genes & repeats	Spleen	Spleen
14	chr5:1870200-1871000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:1870400-1871200	Enhancers	Gastric	stomach
16	chr5:1870400-1871800	Weak transcription	Fetal Heart	heart
17	chr5:1870600-1871400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:1871000-1872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:1871200-1872600	Weak transcription	Gastric	stomach
20	chr5:1871400-1871600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr5:1871600-1872800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:1871800-1873400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:1871800-1874000	Enhancers	Fetal Heart	heart
24	chr5:1872600-1873000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:1872600-1873000	Active TSS	Gastric	stomach
26	chr5:1872800-1873000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr5:1872800-1873000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:1872800-1873200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:1872800-1873200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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