Variant report

Variant	esv3369417
Chromosome Location	chr20:52332945-52337843
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57913883..57915449-chr20:52334275..52336255,2	MCF-7	breast:
2	chr11:64006662..64009013-chr20:52336123..52337723,2	MCF-7	breast:
3	chr20:48551975..48554489-chr20:52333136..52336076,2	MCF-7	breast:
4	chr20:52334345..52336317-chr20:52367627..52369291,2	K562	blood:
5	chr17:56734637..56736712-chr20:52337837..52340430,2	MCF-7	breast:
6	chr20:52337578..52339361-chr20:55838641..55840975,2	MCF-7	breast:
7	chr20:52335362..52337184-chr3:181673086..181675565,2	MCF-7	breast:
8	chr20:52332749..52333464-chr3:98352060..98352684,2	MCF-7	breast:
9	chr17:41465863..41467702-chr20:52337031..52338824,2	MCF-7	breast:
10	chr17:56708102..56709685-chr20:52334422..52336895,2	MCF-7	breast:
11	chr20:52332188..52334360-chr20:52334910..52337778,2	K562	blood:
12	chr20:52332188..52334360-chr20:52334910..52337778,2	K562	blood:
13	chr20:46344123..46345787-chr20:52333550..52336487,2	MCF-7	breast:
14	chr17:59484512..59487133-chr20:52334715..52337484,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000124226	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 211 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57351418	chr20:52332948-52332949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74568384	chr20:52332970-52332971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191488465	chr20:52333007-52333008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184066734	chr20:52333050-52333051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553127155	chr20:52333064-52333065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528311403	chr20:52333108-52333109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560632879	chr20:52333154-52333155	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114033475	chr20:52333239-52333240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536892145	chr20:52333332-52333333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114618356	chr20:52333357-52333358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139253387	chr20:52333369-52333370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567273727	chr20:52333388-52333389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536323691	chr20:52333405-52333406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546732284	chr20:52333417-52333418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188225671	chr20:52333422-52333423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72200762	chr20:52333442-52333443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78381803	chr20:52333443-52333444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376458396	chr20:52333455-52333456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs193072597	chr20:52333511-52333512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559198770	chr20:52333559-52333560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575885814	chr20:52333661-52333662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368929756	chr20:52333686-52333687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149993516	chr20:52333698-52333699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6022685	chr20:52333713-52333714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540316301	chr20:52333716-52333717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6091733	chr20:52333733-52333734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7272948	chr20:52333737-52333738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6126928	chr20:52333739-52333740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57495095	chr20:52333740-52333741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6022686	chr20:52333741-52333742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143345957	chr20:52333742-52333743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6022687	chr20:52333743-52333744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372110964	chr20:52333752-52333753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377741248	chr20:52333756-52333757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61355925	chr20:52333757-52333758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11906006	chr20:52333758-52333759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6013767	chr20:52333762-52333763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs60505674	chr20:52333765-52333766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375438445	chr20:52333766-52333767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371149430	chr20:52333767-52333768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6022688	chr20:52333768-52333769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368932574	chr20:52333771-52333772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs68161236	chr20:52333776-52333777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7265077	chr20:52333778-52333779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs56342202	chr20:52333781-52333782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6022689	chr20:52333782-52333783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6126929	chr20:52333786-52333787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6097542	chr20:52333787-52333788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6022690	chr20:52333788-52333789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6022691	chr20:52333796-52333797	Weak transcription Enhancers	Chromatin interactive region	1 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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52325200-52334600	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:52326200-52333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:52329200-52333000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr20:52330400-52341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:52330800-52337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr20:52331200-52333400	Enhancers	Primary B cells from cord blood	blood
7	chr20:52331200-52340600	Weak transcription	Placenta	Placenta
8	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr20:52331800-52336200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:52332200-52340400	Weak transcription	HepG2	liver
11	chr20:52332400-52335400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr20:52332400-52335600	Weak transcription	GM12878-XiMat	blood
13	chr20:52332600-52334200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:52332800-52333200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr20:52333000-52333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr20:52333000-52333600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:52333200-52334800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr20:52333400-52334800	Weak transcription	Primary B cells from cord blood	blood
19	chr20:52333600-52337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr20:52334200-52334600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr20:52334200-52335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:52334200-52335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:52334600-52334800	Enhancers	Osteobl	bone
24	chr20:52334600-52335000	Enhancers	Fetal Muscle Leg	muscle
25	chr20:52334600-52335400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr20:52334600-52335600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr20:52334800-52335400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr20:52334800-52336400	Enhancers	Primary B cells from cord blood	blood
29	chr20:52334800-52337400	Weak transcription	Osteobl	bone
30	chr20:52335400-52336000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr20:52335400-52336400	Enhancers	Primary B cells from peripheral blood	blood
32	chr20:52335600-52337400	Enhancers	GM12878-XiMat	blood
33	chr20:52336000-52337400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr20:52336200-52337400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr20:52336400-52337400	Weak transcription	Primary B cells from cord blood	blood
36	chr20:52336400-52337400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr20:52337400-52337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr20:52337400-52337800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:52337400-52337800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:52337400-52337800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr20:52337400-52337800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr20:52337400-52337800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:52337400-52337800	Flanking Active TSS	GM12878-XiMat	blood
44	chr20:52337400-52338000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr20:52337400-52338000	Enhancers	Primary T cells from cord blood	blood
46	chr20:52337400-52338000	Enhancers	NH-A	brain
47	chr20:52337400-52338000	Enhancers	NHEK	skin
48	chr20:52337400-52338200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr20:52337400-52338200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr20:52337400-52338200	Enhancers	Primary T helper cells PMA-I stimulated	--

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