Variant report

Variant	esv3382780
Chromosome Location	chr5:1959452-1962650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1961890..1964655-chr5:1980706..1982291,2	MCF-7	breast:
2	chr5:1799592..1801171-chr5:1957766..1959552,2	MCF-7	breast:
3	chr5:1955843..1957628-chr5:1960961..1962792,2	K562	blood:

Variant related genes	Relation type
ENSG00000171421	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562206528	chr5:1959452-1959453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554916750	chr5:1959466-1959467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576587214	chr5:1959506-1959507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543615280	chr5:1959514-1959515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559029506	chr5:1959529-1959530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149285168	chr5:1959554-1959555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36063664	chr5:1959622-1959623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529446681	chr5:1959647-1959648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75524470	chr5:1959666-1959667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569841538	chr5:1959675-1959676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143575512	chr5:1959686-1959687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138196934	chr5:1959689-1959690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370992937	chr5:1959692-1959693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371100214	chr5:1959697-1959698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79404317	chr5:1959711-1959712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577875358	chr5:1959722-1959723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs901504	chr5:1959731-1959732	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201525428	chr5:1959744-1959745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs872807	chr5:1959751-1959752	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532068873	chr5:1959770-1959771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs901505	chr5:1959810-1959811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565339514	chr5:1959827-1959828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143767561	chr5:1959839-1959840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531952411	chr5:1959850-1959851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182620867	chr5:1959876-1959877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs901506	chr5:1959880-1959881	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147239931	chr5:1959886-1959887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115937214	chr5:1959900-1959901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188030452	chr5:1959932-1959933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190770438	chr5:1959933-1959934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574897734	chr5:1959960-1959961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541825779	chr5:1959961-1959962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116608196	chr5:1959988-1959989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372515559	chr5:1960014-1960015	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576236180	chr5:1960015-1960016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374788368	chr5:1960030-1960031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550350744	chr5:1960037-1960038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535130404	chr5:1960058-1960059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140687165	chr5:1960080-1960081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532127849	chr5:1960082-1960083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs547098181	chr5:1960083-1960084	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377006380	chr5:1960108-1960109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183507707	chr5:1960109-1960110	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529661194	chr5:1960120-1960121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs187836340	chr5:1960133-1960134	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570358972	chr5:1960147-1960148	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116274857	chr5:1960254-1960255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552786073	chr5:1960271-1960272	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571062753	chr5:1960321-1960322	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs565086210	chr5:1960330-1960331	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:1949800-1960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:1950600-1963800	Weak transcription	Right Ventricle	heart
4	chr5:1951800-1961400	Weak transcription	HMEC	breast
5	chr5:1952000-1960600	Weak transcription	Gastric	stomach
6	chr5:1952000-1960600	Weak transcription	Pancreas	Pancrea
7	chr5:1952200-1962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:1952200-1962200	Weak transcription	NHEK	skin
9	chr5:1953200-1960600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:1953200-1960600	Weak transcription	Fetal Heart	heart
11	chr5:1953400-1960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:1954000-1960400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:1954000-1962600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:1955000-1965800	Weak transcription	Adipose Nuclei	Adipose
15	chr5:1955800-1960600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:1958200-1959600	Strong transcription	Ovary	ovary
17	chr5:1958200-1962000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:1958200-1966800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:1959600-1960400	Weak transcription	Ovary	ovary
20	chr5:1960000-1961200	ZNF genes & repeats	Esophagus	oesophagus
21	chr5:1960400-1960600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:1960400-1960800	Strong transcription	Ovary	ovary
23	chr5:1960400-1961400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:1960600-1961200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr5:1960600-1961200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:1960600-1961200	Genic enhancers	Gastric	stomach
27	chr5:1960600-1961200	Enhancers	Spleen	Spleen
28	chr5:1960600-1961400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:1960600-1961400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:1960600-1961400	ZNF genes & repeats	Fetal Heart	heart
31	chr5:1960600-1961400	ZNF genes & repeats	Fetal Kidney	kidney
32	chr5:1960600-1961400	ZNF genes & repeats	Pancreas	Pancrea
33	chr5:1960600-1961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:1960800-1961200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr5:1960800-1962000	Weak transcription	Ovary	ovary
36	chr5:1961200-1961400	Strong transcription	Esophagus	oesophagus
37	chr5:1961200-1961400	Active TSS	Gastric	stomach
38	chr5:1961200-1961400	Flanking Active TSS	Dnd41	blood
39	chr5:1961200-1962000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:1961200-1967800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:1961400-1961600	Enhancers	Dnd41	blood
42	chr5:1961400-1962400	Weak transcription	Esophagus	oesophagus
43	chr5:1961400-1963200	Weak transcription	Pancreas	Pancrea
44	chr5:1961400-1963600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:1961400-1964600	Enhancers	HMEC	breast
46	chr5:1961600-1961800	Weak transcription	Fetal Kidney	kidney
47	chr5:1961600-1965800	Weak transcription	Dnd41	blood
48	chr5:1961800-1964400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:1962000-1963400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:1962000-1963800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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