Variant report

Variant	esv2752899
Chromosome Location	chr20:24899800-24923800
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:2)
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	chr20:24914670..24916704-chr20:24919775..24921335,2	MCF-7	breast:
2	chr20:24914670..24916704-chr20:24919775..24921335,2	MCF-7	breast:
3	chr20:24764889..24765421-chr20:24919390..24920112,2	MCF-7	breast:
4	chr20:24910467..24912747-chr20:24972358..24974415,2	MCF-7	breast:
5	chr20:24914439..24915971-chr20:24971852..24973942,2	MCF-7	breast:
6	chr20:24763298..24765600-chr20:24898179..24900035,23	MCF-7	breast:
7	chr20:24909343..24912693-chr20:24913170..24916017,4	MCF-7	breast:
8	chr20:24909343..24912693-chr20:24913170..24916017,4	MCF-7	breast:
9	chr20:24912941..24914562-chr20:24924394..24926104,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf3-1	chr20:24913047-24913619	ENSG00000250527
2	lnc-C20orf3-1	chr20:24911284-24912866	ENSG00000250527

No data

Variant related genes	Relation type
ENSG00000101474	chromatin interactions
ZNF148	miRNA target sites
YOD1	miRNA target sites

Extended variants
information (count: 1121 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1121 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187453049	chr20:24899803-24899804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs143109396	chr20:24899819-24899820	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs1854849	chr20:24899841-24899842	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs567263492	chr20:24899874-24899875	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549703575	chr20:24899898-24899899	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs372844249	chr20:24899905-24899906	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2387362	chr20:24899906-24899907	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369364696	chr20:24899933-24899934	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs79669913	chr20:24899935-24899936	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs538575217	chr20:24899963-24899964	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558281489	chr20:24899988-24899989	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs150886315	chr20:24899994-24899995	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs116745013	chr20:24900006-24900007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77609317	chr20:24900009-24900010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192836173	chr20:24900076-24900077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370439173	chr20:24900098-24900099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527961003	chr20:24900172-24900173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139351061	chr20:24900193-24900194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543040919	chr20:24900196-24900197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553109221	chr20:24900213-24900214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573454975	chr20:24900225-24900226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545381688	chr20:24900234-24900235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7352106	chr20:24900245-24900246	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6050130	chr20:24900259-24900260	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6138406	chr20:24900263-24900264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1977540	chr20:24900290-24900291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529644400	chr20:24900318-24900319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367694907	chr20:24900363-24900364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55722528	chr20:24900364-24900365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386393574	chr20:24900365-24900366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386393575	chr20:24900366-24900367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397828258	chr20:24900367-24900368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111355141	chr20:24900368-24900369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377704347	chr20:24900382-24900383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375604730	chr20:24900438-24900439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145419833	chr20:24900444-24900445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532393965	chr20:24900452-24900453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184922767	chr20:24900457-24900458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568706875	chr20:24900467-24900468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114351164	chr20:24900477-24900478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368855480	chr20:24900480-24900481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574490844	chr20:24900484-24900485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6114928	chr20:24900491-24900492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189558413	chr20:24900498-24900499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553286092	chr20:24900505-24900506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547476711	chr20:24900518-24900519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117635144	chr20:24900534-24900535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6050131	chr20:24900535-24900536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs559341062	chr20:24900550-24900551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6515552	chr20:24900625-24900626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24898400-24899800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24898400-24900600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:24898600-24899800	Enhancers	Fetal Lung	lung
4	chr20:24898600-24899800	Bivalent Enhancer	Fetal Stomach	stomach
5	chr20:24898600-24899800	Enhancers	GM12878-XiMat	blood
6	chr20:24898600-24900000	Enhancers	Adipose Nuclei	Adipose
7	chr20:24898600-24901400	Enhancers	Placenta	Placenta
8	chr20:24898800-24899800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:24898800-24899800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:24898800-24899800	Active TSS	Colonic Mucosa	Colon
11	chr20:24898800-24899800	Enhancers	Colon Smooth Muscle	Colon
12	chr20:24898800-24899800	Enhancers	Esophagus	oesophagus
13	chr20:24898800-24899800	Enhancers	Fetal Thymus	thymus
14	chr20:24898800-24900000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr20:24898800-24901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr20:24899000-24899800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr20:24899000-24899800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr20:24899000-24899800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:24899200-24899800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:24899200-24899800	Enhancers	Primary hematopoietic stem cells	blood
21	chr20:24899200-24899800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:24899200-24899800	Enhancers	Stomach Mucosa	stomach
23	chr20:24899200-24900000	Enhancers	Fetal Muscle Leg	muscle
24	chr20:24899200-24900000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr20:24899200-24900600	Enhancers	Pancreas	Pancrea
26	chr20:24899200-24901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:24899200-24902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr20:24899400-24899800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr20:24899400-24899800	Enhancers	HSMMtube	muscle
30	chr20:24899400-24900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:24899400-24902000	Enhancers	Ovary	ovary
32	chr20:24899600-24899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:24899600-24899800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr20:24899600-24901000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:24899800-24900600	Weak transcription	Fetal Lung	lung
36	chr20:24899800-24900800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:24900000-24901200	Weak transcription	Fetal Muscle Leg	muscle
38	chr20:24900400-24906400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr20:24900600-24900800	Enhancers	Fetal Lung	lung
40	chr20:24900600-24901200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr20:24900800-24901200	Weak transcription	Fetal Lung	lung
42	chr20:24900800-24901600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:24901000-24901400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:24901200-24901400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:24901200-24901400	Enhancers	Fetal Muscle Leg	muscle
46	chr20:24901200-24901600	Enhancers	Fetal Lung	lung
47	chr20:24901400-24901600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:24901400-24915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:24907600-24911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:24908600-24908800	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links