Variant report

Variant	esv20034
Chromosome Location	chr5:1951028-1951678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1799132..1801458-chr5:1950722..1953001,2	K562	blood:
2	chr5:1799852..1801806-chr5:1950738..1953312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171421	chromatin interactions
ENSG00000145494	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78442503	chr5:1951028-1951029	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557628336	chr5:1951031-1951032	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569471949	chr5:1951053-1951054	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527304900	chr5:1951065-1951066	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201088729	chr5:1951086-1951087	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548771366	chr5:1951108-1951109	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567389374	chr5:1951111-1951112	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370412767	chr5:1951124-1951125	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114605363	chr5:1951125-1951126	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373183181	chr5:1951128-1951129	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573223571	chr5:1951142-1951143	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375901836	chr5:1951143-1951144	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542783339	chr5:1951154-1951155	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540107502	chr5:1951158-1951159	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555451843	chr5:1951220-1951221	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368851513	chr5:1951222-1951223	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116734865	chr5:1951224-1951225	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs202184474	chr5:1951225-1951226	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200438233	chr5:1951226-1951227	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371110193	chr5:1951237-1951238	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150193503	chr5:1951242-1951243	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545639053	chr5:1951243-1951244	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571961048	chr5:1951261-1951262	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113925610	chr5:1951265-1951266	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564221915	chr5:1951278-1951279	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528145632	chr5:1951286-1951287	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546610457	chr5:1951292-1951293	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs561660775	chr5:1951298-1951299	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs62652466	chr5:1951329-1951330	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368620767	chr5:1951348-1951349	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370558740	chr5:1951349-1951350	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139946758	chr5:1951361-1951362	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111217426	chr5:1951385-1951386	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs193048529	chr5:1951419-1951420	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539296754	chr5:1951437-1951438	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs146900290	chr5:1951448-1951449	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62652467	chr5:1951455-1951456	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551299900	chr5:1951464-1951465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569534319	chr5:1951475-1951476	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371924186	chr5:1951476-1951477	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146015513	chr5:1951479-1951480	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566981144	chr5:1951487-1951488	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199528700	chr5:1951505-1951506	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs28529452	chr5:1951523-1951524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555769625	chr5:1951524-1951525	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536663429	chr5:1951533-1951534	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573692042	chr5:1951537-1951538	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537800480	chr5:1951542-1951543	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199738150	chr5:1951561-1951562	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556846045	chr5:1951570-1951571	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 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
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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:1942600-1953800	Weak transcription	Ovary	ovary
3	chr5:1946800-1951800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:1947000-1951600	Enhancers	Fetal Heart	heart
5	chr5:1947200-1952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:1949400-1951400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:1949800-1960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:1950200-1951400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:1950200-1951400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:1950600-1952000	ZNF genes & repeats	Esophagus	oesophagus
11	chr5:1950600-1963800	Weak transcription	Right Ventricle	heart
12	chr5:1950800-1952000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:1950800-1952000	ZNF genes & repeats	Gastric	stomach
14	chr5:1950800-1952000	ZNF genes & repeats	Pancreas	Pancrea
15	chr5:1950800-1952200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:1951000-1952200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:1951400-1951800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:1951400-1952200	ZNF genes & repeats	NHEK	skin
19	chr5:1951400-1953200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:1951400-1954000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:1951600-1951800	Enhancers	HMEC	breast
22	chr5:1951600-1952000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr5:1951600-1952000	Weak transcription	Fetal Heart	heart

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