Variant report

Variant	esv2451339
Chromosome Location	chr5:1950083-1951780
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	chr5:1799852..1801806-chr5:1950738..1953312,2	MCF-7	breast:
2	chr5:1799132..1801458-chr5:1950722..1953001,2	K562	blood:

Variant related genes	Relation type
ENSG00000145494	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183464450	chr5:1950116-1950117	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189350383	chr5:1950162-1950163	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575781162	chr5:1950183-1950184	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546247969	chr5:1950187-1950188	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116059183	chr5:1950212-1950213	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs182272970	chr5:1950222-1950223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs78088625	chr5:1950228-1950229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs557891238	chr5:1950232-1950233	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs559340646	chr5:1950251-1950252	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs376938045	chr5:1950271-1950272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs35072917	chr5:1950325-1950326	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs185667356	chr5:1950326-1950327	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs10066840	chr5:1950343-1950344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546515711	chr5:1950354-1950355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs542706084	chr5:1950355-1950356	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs530498970	chr5:1950438-1950439	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561453266	chr5:1950456-1950457	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs551788232	chr5:1950504-1950505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs529041952	chr5:1950545-1950546	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs570415833	chr5:1950594-1950595	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs535054615	chr5:1950608-1950609	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553631364	chr5:1950609-1950610	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568619194	chr5:1950610-1950611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs16902093	chr5:1950611-1950612	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562441923	chr5:1950618-1950619	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557568934	chr5:1950635-1950636	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140912954	chr5:1950642-1950643	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs546311095	chr5:1950643-1950644	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190092022	chr5:1950673-1950674	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs28705705	chr5:1950679-1950680	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376313765	chr5:1950698-1950699	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540223656	chr5:1950702-1950703	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559616543	chr5:1950718-1950719	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs6863595	chr5:1950722-1950723	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541649600	chr5:1950724-1950725	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369937953	chr5:1950735-1950736	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373823771	chr5:1950741-1950742	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs6888599	chr5:1950767-1950768	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530557878	chr5:1950837-1950838	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377605473	chr5:1950845-1950846	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552245903	chr5:1950855-1950856	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181779100	chr5:1950878-1950879	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369002072	chr5:1950921-1950922	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11748597	chr5:1950933-1950934	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528096701	chr5:1950954-1950955	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546243985	chr5:1950956-1950957	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376056183	chr5:1950972-1950973	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568764857	chr5:1951015-1951016	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536141657	chr5:1951016-1951017	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369261773	chr5:1951025-1951026	ZNF genes & repeats Enhancers Weak 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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1932000-1950800	Weak transcription	Gastric	stomach
2	chr5:1935600-1950800	Weak transcription	Pancreas	Pancrea
3	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
4	chr5:1942600-1953800	Weak transcription	Ovary	ovary
5	chr5:1946800-1951800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:1947000-1951600	Enhancers	Fetal Heart	heart
7	chr5:1947200-1952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:1948400-1950600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr5:1948600-1950200	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:1949000-1950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr5:1949200-1950800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:1949400-1950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:1949400-1950600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr5:1949400-1951400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:1949600-1950200	Enhancers	NHEK	skin
16	chr5:1949600-1950600	Weak transcription	Left Ventricle	heart
17	chr5:1949800-1950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:1949800-1950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:1949800-1950600	Weak transcription	Esophagus	oesophagus
20	chr5:1949800-1950600	Enhancers	HMEC	breast
21	chr5:1949800-1960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:1950000-1950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:1950000-1950400	Weak transcription	Right Ventricle	heart
24	chr5:1950200-1950400	Weak transcription	NHEK	skin
25	chr5:1950200-1951400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:1950200-1951400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:1950400-1950600	Enhancers	Right Ventricle	heart
28	chr5:1950600-1952000	ZNF genes & repeats	Esophagus	oesophagus
29	chr5:1950600-1963800	Weak transcription	Right Ventricle	heart
30	chr5:1950800-1951000	Enhancers	Left Ventricle	heart
31	chr5:1950800-1952000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:1950800-1952000	ZNF genes & repeats	Gastric	stomach
33	chr5:1950800-1952000	ZNF genes & repeats	Pancreas	Pancrea
34	chr5:1950800-1952200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:1951000-1952200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:1951400-1951800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:1951400-1952200	ZNF genes & repeats	NHEK	skin
38	chr5:1951400-1953200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:1951400-1954000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:1951600-1951800	Enhancers	HMEC	breast
41	chr5:1951600-1952000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr5:1951600-1952000	Weak transcription	Fetal Heart	heart

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