Variant report

Variant	esv3347191
Chromosome Location	chr20:52391640-52394708
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52391167..52393135-chr20:52407671..52409754,2	K562	blood:
2	chr17:57182506..57184225-chr20:52392431..52394018,2	MCF-7	breast:
3	chr20:52394379..52396500-chr20:55838056..55841010,3	MCF-7	breast:
4	chr17:56707652..56709545-chr20:52392400..52396292,3	MCF-7	breast:
5	chr11:85396411..85399153-chr20:52390858..52392861,2	MCF-7	breast:
6	chr17:57916023..57918141-chr20:52390643..52392625,2	MCF-7	breast:
7	chr20:52390713..52393144-chr20:52838383..52839973,2	MCF-7	breast:
8	chr17:56708353..56710257-chr20:52391606..52394315,2	MCF-7	breast:
9	chr20:52382904..52385794-chr20:52390290..52392254,2	K562	blood:
10	chr20:52390917..52393091-chr20:55841679..55843689,2	MCF-7	breast:
11	chr17:57930644..57932261-chr20:52388672..52392244,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101144	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000179071	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000108395	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142720116	chr20:52391641-52391642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs552868610	chr20:52391745-52391746	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs147372648	chr20:52391746-52391747	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs184530886	chr20:52391808-52391809	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs188221076	chr20:52391810-52391811	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs568450937	chr20:52391818-52391819	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs191716947	chr20:52391822-52391823	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs376838471	chr20:52391864-52391865	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs139529343	chr20:52391925-52391926	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs566298704	chr20:52391937-52391938	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs184177844	chr20:52391946-52391947	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs143539467	chr20:52392046-52392047	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs569170101	chr20:52392049-52392050	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs537434391	chr20:52392050-52392051	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs73622233	chr20:52392147-52392148	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs62208431	chr20:52392183-52392184	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs199750247	chr20:52392184-52392185	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs79181287	chr20:52392185-52392186	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs554597380	chr20:52392190-52392191	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs574353372	chr20:52392195-52392196	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs398081404	chr20:52392196-52392197	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs75132553	chr20:52392197-52392198	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs371125110	chr20:52392222-52392223	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs144763712	chr20:52392289-52392290	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs577484980	chr20:52392356-52392357	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs546447795	chr20:52392361-52392362	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs148560362	chr20:52392370-52392371	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs36080156	chr20:52392389-52392390	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4399775	chr20:52392390-52392391	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541852536	chr20:52392394-52392395	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs574317674	chr20:52392399-52392400	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs6068658	chr20:52392418-52392419	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs574421468	chr20:52392426-52392427	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs562066532	chr20:52392446-52392447	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs527693661	chr20:52392478-52392479	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs543220728	chr20:52392523-52392524	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs142971944	chr20:52392546-52392547	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs570641433	chr20:52392567-52392568	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs556940847	chr20:52392606-52392607	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs6063992	chr20:52392632-52392633	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs539930499	chr20:52392638-52392639	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs7267291	chr20:52392639-52392640	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs73622234	chr20:52392656-52392657	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs140018014	chr20:52392657-52392658	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs569055025	chr20:52392684-52392685	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs188998836	chr20:52392713-52392714	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs181652861	chr20:52392715-52392716	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs554577997	chr20:52392719-52392720	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs544203475	chr20:52392754-52392755	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs73622235	chr20:52392803-52392804	Weak transcription Enhancers	Chromatin interactive region	6 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
Colorectal cancer	16774939	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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52381000-52394600	Weak transcription	Right Atrium	heart
2	chr20:52384400-52394800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:52385400-52392400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:52388800-52392000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:52389000-52391800	Enhancers	HSMMtube	muscle
6	chr20:52389000-52392000	Enhancers	HMEC	breast
7	chr20:52389000-52392000	Enhancers	NHEK	skin
8	chr20:52389400-52392000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:52389400-52392200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr20:52389600-52391800	Enhancers	Fetal Muscle Leg	muscle
11	chr20:52389800-52391800	Enhancers	Hela-S3	cervix
12	chr20:52389800-52392000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:52390000-52391800	Enhancers	Adipose Nuclei	Adipose
14	chr20:52390000-52391800	Enhancers	Fetal Stomach	stomach
15	chr20:52390000-52391800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr20:52390000-52391800	Enhancers	HUVEC	blood vessel
17	chr20:52390200-52391800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:52390200-52391800	Flanking Active TSS	A549	lung
19	chr20:52390200-52403400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:52390400-52395000	Enhancers	HepG2	liver
21	chr20:52390600-52394200	Weak transcription	Liver	Liver
22	chr20:52390800-52391800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:52390800-52391800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:52390800-52391800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr20:52390800-52391800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:52390800-52391800	Flanking Active TSS	NH-A	brain
27	chr20:52390800-52391800	Flanking Active TSS	Osteobl	bone
28	chr20:52390800-52392000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:52391000-52391800	Enhancers	Pancreas	Pancrea
30	chr20:52391200-52391800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:52391200-52392000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:52391200-52394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr20:52391400-52392400	Enhancers	HSMM	muscle
34	chr20:52391400-52394600	Weak transcription	Placenta	Placenta
35	chr20:52391400-52394600	Weak transcription	Stomach Mucosa	stomach
36	chr20:52391600-52392000	Enhancers	NHLF	lung
37	chr20:52391600-52392400	Enhancers	NHDF-Ad	bronchial
38	chr20:52391600-52394600	Weak transcription	Small Intestine	intestine
39	chr20:52391800-52392000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:52391800-52392000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr20:52391800-52392000	Enhancers	NH-A	brain
42	chr20:52391800-52392000	Enhancers	Osteobl	bone
43	chr20:52391800-52393200	Enhancers	A549	lung
44	chr20:52391800-52394400	Weak transcription	Pancreas	Pancrea
45	chr20:52391800-52394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr20:52392000-52394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:52392000-52394400	Weak transcription	NHEK	skin
48	chr20:52392000-52394800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr20:52392000-52394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:52392000-52394800	Weak transcription	HMEC	breast

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