Variant report

Variant	esv3440296
Chromosome Location	chr20:52508170-52510718
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:0)
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	chr20:52507216..52510163-chr20:55822269..55824456,2	MCF-7	breast:
2	chr20:52507107..52509480-chr8:90914201..90916208,2	MCF-7	breast:
3	chr20:52502125..52504611-chr20:52505753..52508666,2	K562	blood:
4	chr20:52508062..52510082-chr20:52513024..52514918,2	K562	blood:
5	chr20:52508732..52511577-chr20:55764444..55767184,2	MCF-7	breast:
6	chr20:52508084..52511476-chr20:55839330..55841787,4	MCF-7	breast:
7	chr20:52502125..52504163-chr20:52505753..52508684,2	K562	blood:
8	chr1:152020279..152022552-chr20:52509984..52512856,2	MCF-7	breast:
9	chr20:52507734..52509880-chr3:64127368..64129700,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163191	chromatin interactions
ENSG00000164823	chromatin interactions
ENSG00000101144	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186037667	chr20:52508171-52508172	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117425077	chr20:52508235-52508236	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189714949	chr20:52508253-52508254	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558622055	chr20:52508272-52508273	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543897230	chr20:52508277-52508278	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201955352	chr20:52508300-52508301	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73622287	chr20:52508301-52508302	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181226019	chr20:52508348-52508349	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560672234	chr20:52508351-52508352	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs78771442	chr20:52508356-52508357	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375560796	chr20:52508390-52508391	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368780457	chr20:52508397-52508398	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186690140	chr20:52508422-52508423	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73914416	chr20:52508438-52508439	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs56047891	chr20:52508470-52508471	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568412611	chr20:52508471-52508472	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534029378	chr20:52508501-52508502	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373204161	chr20:52508502-52508503	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553806599	chr20:52508517-52508518	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551542426	chr20:52508602-52508603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191568526	chr20:52508613-52508614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558698304	chr20:52508621-52508622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575485789	chr20:52508635-52508636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544462092	chr20:52508645-52508646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374369979	chr20:52508686-52508687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554289923	chr20:52508699-52508700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183187793	chr20:52508731-52508732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540340206	chr20:52508772-52508773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534762200	chr20:52508788-52508789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11905597	chr20:52508844-52508845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532221931	chr20:52508866-52508867	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546114077	chr20:52508877-52508878	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34968848	chr20:52508892-52508893	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186312920	chr20:52508900-52508901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201139135	chr20:52509001-52509002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149335823	chr20:52509020-52509021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191056448	chr20:52509113-52509114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs202177158	chr20:52509170-52509171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144435937	chr20:52509199-52509200	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200236660	chr20:52509262-52509263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs13038372	chr20:52509265-52509266	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182171336	chr20:52509290-52509291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187543302	chr20:52509301-52509302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191132904	chr20:52509311-52509312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182976143	chr20:52509323-52509324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188414943	chr20:52509337-52509338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547387005	chr20:52509378-52509379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs570643200	chr20:52509381-52509382	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539533163	chr20:52509386-52509387	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs552103636	chr20:52509391-52509392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52500600-52515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:52501800-52508400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:52501800-52509200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:52501800-52509400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr20:52501800-52509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:52501800-52509400	Weak transcription	Thymus	Thymus
7	chr20:52501800-52509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:52502000-52509400	Weak transcription	Primary T cells from cord blood	blood
9	chr20:52502200-52509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:52502200-52509600	Weak transcription	NHEK	skin
11	chr20:52502600-52509400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:52502800-52509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:52503000-52509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:52503800-52509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr20:52505400-52508800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:52505400-52509400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr20:52505400-52509400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr20:52505600-52508400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr20:52505800-52508400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr20:52505800-52508600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr20:52505800-52509400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr20:52505800-52509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr20:52505800-52509400	Weak transcription	Fetal Thymus	thymus
24	chr20:52506800-52509800	Enhancers	NHLF	lung
25	chr20:52507000-52508200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:52507000-52508200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:52507000-52508200	Enhancers	Duodenum Mucosa	Duodenum
28	chr20:52507000-52508200	Enhancers	Fetal Intestine Small	intestine
29	chr20:52507000-52508400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr20:52507000-52508600	Enhancers	HUVEC	blood vessel
31	chr20:52507000-52508800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr20:52507000-52509000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr20:52507200-52510400	Enhancers	NH-A	brain
34	chr20:52507400-52508200	Bivalent Enhancer	HepG2	liver
35	chr20:52507400-52508400	Weak transcription	HMEC	breast
36	chr20:52507400-52508800	Enhancers	GM12878-XiMat	blood
37	chr20:52507400-52509400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr20:52507400-52509600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:52507400-52509600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr20:52507400-52509800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr20:52507400-52510200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr20:52507600-52508400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr20:52507600-52509400	Enhancers	NHDF-Ad	bronchial
44	chr20:52507600-52509400	Weak transcription	Osteobl	bone
45	chr20:52507600-52509600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:52507800-52508600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr20:52507800-52509400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr20:52507800-52509400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:52507800-52509400	Weak transcription	Spleen	Spleen
50	chr20:52507800-52509600	Enhancers	Primary B cells from cord blood	blood

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