Variant report

Variant	esv2760673
Chromosome Location	chr20:53254815-53258810
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52824537..52826295-chr20:53254798..53257293,2	MCF-7	breast:
2	chr20:52842269..52844350-chr20:53256465..53259306,2	MCF-7	breast:
3	chr20:47521447..47522030-chr20:53256876..53257446,2	MCF-7	breast:
4	chr20:53250383..53253224-chr20:53254055..53257121,4	MCF-7	breast:
5	chr20:53073165..53075653-chr20:53254316..53256773,2	MCF-7	breast:
6	chr20:53258691..53260820-chr9:131702974..131705008,2	MCF-7	breast:
7	chr20:52836081..52837015-chr20:53256592..53257713,5	MCF-7	breast:
8	chr20:52822509..52823261-chr20:53256891..53257422,2	MCF-7	breast:
9	chr20:53095783..53096550-chr20:53256431..53257396,3	MCF-7	breast:
10	chr20:53242261..53247525-chr20:53253994..53258088,8	MCF-7	breast:
11	chr20:53255269..53257076-chr20:53258321..53260016,2	K562	blood:
12	chr20:53255269..53257076-chr20:53258321..53260016,2	K562	blood:
13	chr20:52981982..52984941-chr20:53255246..53257720,2	MCF-7	breast:
14	chr20:52828484..52831643-chr20:53256880..53260279,4	MCF-7	breast:
15	chr17:56708372..56710185-chr20:53258273..53260843,2	MCF-7	breast:
16	chr20:53071107..53073077-chr20:53258088..53260075,2	MCF-7	breast:
17	chr20:52821463..52842130-chr20:53255769..53272087,93	MCF-7	breast:
18	chr20:53235605..53237909-chr20:53254058..53257053,2	MCF-7	breast:
19	chr20:52834718..52835643-chr20:53256141..53256960,2	MCF-7	breast:
20	chr20:52834872..52837483-chr20:53257403..53260162,2	MCF-7	breast:
21	chr20:52567585..52570584-chr20:53257442..53259589,2	MCF-7	breast:
22	chr20:53131249..53131942-chr20:53256580..53257475,2	MCF-7	breast:
23	chr20:53254267..53257182-chr20:53259848..53265627,6	MCF-7	breast:
24	chr20:53257490..53260450-chr3:64522164..64524068,2	MCF-7	breast:
25	chr20:53184299..53185930-chr20:53258738..53260954,2	K562	blood:
26	chr20:52813822..52828208-chr20:53257867..53268573,36	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	chromatin interactions
ENSG00000251184	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6023437	chr20:53254815-53254816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs138127756	chr20:53254835-53254836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574883016	chr20:53254903-53254904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549558293	chr20:53254911-53254912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185809272	chr20:53254939-53254940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571467327	chr20:53254961-53254962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6023438	chr20:53254965-53254966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114190327	chr20:53254997-53254998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532445066	chr20:53255007-53255008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552139102	chr20:53255015-53255016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188236349	chr20:53255031-53255032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143862187	chr20:53255032-53255033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530688480	chr20:53255044-53255045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10485783	chr20:53255062-53255063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139189837	chr20:53255080-53255081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529800551	chr20:53255115-53255116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546417935	chr20:53255144-53255145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373085115	chr20:53255227-53255228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566545851	chr20:53255242-53255243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538665406	chr20:53255245-53255246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180744967	chr20:53255267-53255268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12481192	chr20:53255273-53255274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370693444	chr20:53255281-53255282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374356131	chr20:53255286-53255287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376998870	chr20:53255291-53255292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11476340	chr20:53255292-53255293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs397693015	chr20:53255310-53255311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112652811	chr20:53255313-53255314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143113158	chr20:53255374-53255375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574982413	chr20:53255375-53255376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567423489	chr20:53255402-53255403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144525639	chr20:53255411-53255412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6023439	chr20:53255439-53255440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554009512	chr20:53255443-53255444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576907197	chr20:53255459-53255460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536681143	chr20:53255478-53255479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370943907	chr20:53255482-53255483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34410582	chr20:53255510-53255511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562509963	chr20:53255511-53255512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34936231	chr20:53255515-53255516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530723527	chr20:53255548-53255549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544055502	chr20:53255554-53255555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561226940	chr20:53255570-53255571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571063973	chr20:53255586-53255587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190062389	chr20:53255596-53255597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4811514	chr20:53255625-53255626	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375497163	chr20:53255629-53255630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552209553	chr20:53255647-53255648	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570174753	chr20:53255723-53255724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538745651	chr20:53255779-53255780	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53242400-53270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:53249600-53259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:53250600-53255600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:53250600-53255800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr20:53250600-53259800	Weak transcription	Fetal Brain Female	brain
6	chr20:53250800-53256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr20:53250800-53256800	Weak transcription	Brain Germinal Matrix	brain
8	chr20:53250800-53260000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:53251000-53256400	Weak transcription	Fetal Brain Male	brain
10	chr20:53252200-53255000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr20:53254000-53259800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr20:53254200-53255600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr20:53255600-53256400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr20:53255600-53256400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr20:53255600-53256800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr20:53255600-53256800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:53255800-53256000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr20:53256000-53256400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr20:53256400-53256800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr20:53256400-53256800	Enhancers	Fetal Brain Male	brain
21	chr20:53256800-53257000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr20:53256800-53257600	Enhancers	Brain Germinal Matrix	brain
23	chr20:53256800-53258400	Enhancers	Fetal Lung	lung
24	chr20:53256800-53259600	Weak transcription	Fetal Brain Male	brain
25	chr20:53257600-53266000	Weak transcription	Brain Germinal Matrix	brain

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