Variant report

Variant	esv3350346
Chromosome Location	chr20:25085001-25110746
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	chr20:25038683..25041446-chr20:25083785..25085401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154930	chromatin interactions

Extended variants
information (count: 754 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576739935	chr20:25085054-25085055	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185901755	chr20:25085072-25085073	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12625281	chr20:25085080-25085081	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539783949	chr20:25085099-25085100	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115721361	chr20:25085126-25085127	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576588381	chr20:25085136-25085137	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs36114078	chr20:25085138-25085139	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542394127	chr20:25085149-25085150	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561461910	chr20:25085152-25085153	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74173666	chr20:25085185-25085186	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540628831	chr20:25085197-25085198	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142019249	chr20:25085216-25085217	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6050320	chr20:25085228-25085229	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549856448	chr20:25085280-25085281	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563579850	chr20:25085283-25085284	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529114740	chr20:25085300-25085301	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549168543	chr20:25085326-25085327	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568569065	chr20:25085374-25085375	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190455308	chr20:25085385-25085386	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547901237	chr20:25085392-25085393	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182690122	chr20:25085401-25085402	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12480682	chr20:25085416-25085417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76868701	chr20:25085459-25085460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375068830	chr20:25085564-25085565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570295350	chr20:25085593-25085594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113161134	chr20:25085595-25085596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535674576	chr20:25085604-25085605	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs555493880	chr20:25085737-25085738	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs200676210	chr20:25085738-25085739	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs76125090	chr20:25085758-25085759	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs2224073	chr20:25085760-25085761	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs539961940	chr20:25085785-25085786	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs570257014	chr20:25086010-25086011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373340450	chr20:25086040-25086041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182949147	chr20:25086047-25086048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555633061	chr20:25086048-25086049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565981571	chr20:25086053-25086054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536201210	chr20:25086064-25086065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142341850	chr20:25086065-25086066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557604736	chr20:25086081-25086082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577635477	chr20:25086082-25086083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376065505	chr20:25086084-25086085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543051296	chr20:25086094-25086095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556872865	chr20:25086099-25086100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573668346	chr20:25086117-25086118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542988556	chr20:25086118-25086119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559662675	chr20:25086124-25086125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528327645	chr20:25086128-25086129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545189777	chr20:25086129-25086130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564445365	chr20:25086132-25086133	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25083800-25085200	Bivalent Enhancer	HepG2	liver
2	chr20:25084800-25085400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25085400-25085800	Enhancers	Gastric	stomach
4	chr20:25085600-25085800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
5	chr20:25086000-25086400	Enhancers	Gastric	stomach
6	chr20:25095000-25095600	Enhancers	A549	lung
7	chr20:25095000-25095800	Enhancers	HepG2	liver
8	chr20:25095200-25095400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:25095200-25095400	Enhancers	Gastric	stomach
10	chr20:25095200-25095400	Enhancers	Pancreas	Pancrea
11	chr20:25095400-25096000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
12	chr20:25095400-25096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:25095400-25098200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:25095400-25099000	Weak transcription	Gastric	stomach
15	chr20:25095600-25096000	Flanking Active TSS	A549	lung
16	chr20:25095600-25096600	Weak transcription	Pancreas	Pancrea
17	chr20:25095600-25097600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr20:25095600-25098000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:25095800-25096000	Enhancers	Brain Anterior Caudate	brain
20	chr20:25095800-25096600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:25095800-25096800	Flanking Active TSS	HepG2	liver
22	chr20:25095800-25097200	Enhancers	Liver	Liver
23	chr20:25095800-25097200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr20:25095800-25097200	Enhancers	Stomach Smooth Muscle	stomach
25	chr20:25095800-25097400	Enhancers	Colon Smooth Muscle	Colon
26	chr20:25095800-25097400	Enhancers	Fetal Brain Female	brain
27	chr20:25095800-25099000	Enhancers	Fetal Brain Male	brain
28	chr20:25095800-25099200	Enhancers	Fetal Muscle Leg	muscle
29	chr20:25096000-25096400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:25096000-25096400	Enhancers	Fetal Kidney	kidney
31	chr20:25096000-25096400	Active TSS	A549	lung
32	chr20:25096000-25096800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:25096000-25097600	Enhancers	Aorta	Aorta
34	chr20:25096000-25098200	Enhancers	Brain Hippocampus Middle	brain
35	chr20:25096000-25098200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr20:25096000-25099000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:25096000-25099000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr20:25096200-25098000	Enhancers	Brain Cingulate Gyrus	brain
39	chr20:25096400-25096800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr20:25096400-25097000	Flanking Active TSS	A549	lung
41	chr20:25096400-25097400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr20:25096400-25097600	Enhancers	Brain Angular Gyrus	brain
43	chr20:25096400-25097600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr20:25096600-25096800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:25096600-25097000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr20:25096600-25097200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:25096600-25097200	Enhancers	Pancreas	Pancrea
48	chr20:25096600-25097200	Enhancers	Right Atrium	heart
49	chr20:25096800-25097000	Enhancers	Rectal Smooth Muscle	rectum
50	chr20:25096800-25097000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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