Variant report

Variant	esv2296359
Chromosome Location	chr20:52750391-52750832
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:53344317..53347285-chr20:52748753..52751041,2	MCF-7	breast:
2	chr20:52749967..52752847-chr20:52755293..52758111,2	K562	blood:
3	chr20:49346111..49348887-chr20:52750749..52752631,2	MCF-7	breast:
4	chr20:46640095..46644047-chr20:52746837..52750756,3	MCF-7	breast:
5	chr17:57913131..57926939-chr20:52735776..52751538,42	MCF-7	breast:
6	chr15:63794674..63797406-chr20:52748938..52750854,2	MCF-7	breast:
7	chr17:56736366..56738088-chr20:52748194..52751006,3	MCF-7	breast:
8	chr20:52749888..52750589-chr20:52813974..52814709,2	MCF-7	breast:
9	chr20:46413224..46418685-chr20:52746491..52752686,10	MCF-7	breast:
10	chr20:52749844..52752672-chrX:76227808..76229967,2	MCF-7	breast:
11	chr20:46616780..46618691-chr20:52748141..52750829,2	MCF-7	breast:
12	chr17:56735202..56737939-chr20:52748696..52751920,4	MCF-7	breast:
13	chr17:56704127..56711907-chr20:52729106..52752952,70	MCF-7	breast:
14	chr20:52749860..52752197-chr8:108092484..108095332,2	MCF-7	breast:
15	chr20:52748698..52751291-chr5:43063719..43066495,2	MCF-7	breast:
16	chr20:52749818..52752750-chr5:43554749..43557451,2	MCF-7	breast:
17	chr1:184044285..184045279-chr20:52750627..52751499,2	MCF-7	breast:
18	chr17:56707619..56710651-chr20:52747363..52752620,6	MCF-7	breast:
19	chr17:46114293..46114952-chr20:52750236..52751200,2	MCF-7	breast:
20	chr20:46417525..46420204-chr20:52747771..52750602,2	MCF-7	breast:
21	chr17:57922783..57925093-chr20:52747616..52750440,2	MCF-7	breast:
22	chr20:52720225..52723216-chr20:52749431..52752183,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265039	chromatin interactions
ENSG00000237423	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000207947	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000140455	chromatin interactions
ENSG00000225410	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373541866	chr20:52750422-52750423	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs386815201	chr20:52750459-52750460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs8118062	chr20:52750460-52750461	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs8117971	chr20:52750468-52750469	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6022979	chr20:52750469-52750470	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs8118066	chr20:52750471-52750472	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138438547	chr20:52750505-52750506	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs545219706	chr20:52750506-52750507	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs564906507	chr20:52750556-52750557	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs149262740	chr20:52750594-52750595	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs530879008	chr20:52750596-52750597	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs141512989	chr20:52750602-52750603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs201579735	chr20:52750604-52750605	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs6022980	chr20:52750611-52750612	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs113645173	chr20:52750646-52750647	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs6022981	chr20:52750662-52750663	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs182498280	chr20:52750668-52750669	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs60250398	chr20:52750730-52750731	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35919950	chr20:52750796-52750797	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566578155	chr20:52750819-52750820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	15 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52748000-52750400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr20:52748200-52750400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:52748200-52751800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:52748200-52751800	Enhancers	HMEC	breast
5	chr20:52748400-52750600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:52748400-52750600	Flanking Active TSS	HepG2	liver
7	chr20:52748400-52750800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:52748400-52751400	Enhancers	NHLF	lung
9	chr20:52748800-52750400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:52748800-52751000	Flanking Active TSS	A549	lung
11	chr20:52748800-52751600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:52749400-52750400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:52749400-52751400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:52749400-52751600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:52749400-52751800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:52749600-52750400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:52749600-52750400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr20:52749600-52750400	Flanking Active TSS	NHDF-Ad	bronchial
19	chr20:52749600-52750400	Flanking Active TSS	Osteobl	bone
20	chr20:52749600-52750600	Enhancers	Brain Hippocampus Middle	brain
21	chr20:52749800-52750400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:52749800-52750400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:52750000-52750400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr20:52750000-52750400	Enhancers	Brain Substantia Nigra	brain
25	chr20:52750000-52750400	Enhancers	HSMMtube	muscle
26	chr20:52750000-52750400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr20:52750200-52750400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:52750200-52750400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr20:52750200-52750400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr20:52750200-52750600	Enhancers	NH-A	brain
31	chr20:52750200-52750600	Enhancers	NHEK	skin
32	chr20:52750200-52751000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr20:52750200-52751000	Weak transcription	Placenta	Placenta
34	chr20:52750200-52751400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:52750200-52751400	Enhancers	HSMM	muscle
36	chr20:52750200-52751600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52750200-52751800	Enhancers	Hela-S3	cervix
38	chr20:52750200-52756600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr20:52750400-52750600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr20:52750400-52750800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:52750400-52750800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr20:52750400-52751400	Enhancers	NHDF-Ad	bronchial
43	chr20:52750400-52751600	Enhancers	Osteobl	bone
44	chr20:52750600-52750800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:52750600-52750800	Flanking Active TSS	NH-A	brain
46	chr20:52750600-52750800	Flanking Active TSS	NHEK	skin
47	chr20:52750600-52751800	Enhancers	HepG2	liver
48	chr20:52750800-52751200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr20:52750800-52751200	Enhancers	NHEK	skin
50	chr20:52750800-52751800	Enhancers	NH-A	brain

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