Variant report

Variant	esv2441780
Chromosome Location	chr20:53183865-53185302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53181644..53185762-chr20:53186506..53190453,4	MCF-7	breast:
2	chr20:53184698..53187233-chr20:53241070..53243919,2	MCF-7	breast:
3	chr20:53184299..53185930-chr20:53258738..53260954,2	K562	blood:
4	chr20:53182959..53184941-chr20:53197228..53200204,2	MCF-7	breast:
5	chr17:57828124..57830720-chr20:53183835..53186353,2	MCF-7	breast:
6	chr20:53185049..53189714-chr20:53202808..53207275,5	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537464814	chr20:53183901-53183902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115484950	chr20:53183958-53183959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539541724	chr20:53183959-53183960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551457111	chr20:53183993-53183994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571379303	chr20:53183996-53183997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185949218	chr20:53184044-53184045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190752631	chr20:53184081-53184082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377277499	chr20:53184143-53184144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533635401	chr20:53184144-53184145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371991459	chr20:53184174-53184175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536582414	chr20:53184189-53184190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553525404	chr20:53184203-53184204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35347233	chr20:53184219-53184220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573308494	chr20:53184247-53184248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539228805	chr20:53184288-53184289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558600242	chr20:53184293-53184294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184083911	chr20:53184339-53184340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544187092	chr20:53184415-53184416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560990892	chr20:53184425-53184426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1150426	chr20:53184428-53184429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200045069	chr20:53184441-53184442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114707096	chr20:53184490-53184491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559609356	chr20:53184495-53184496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528240100	chr20:53184522-53184523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576609786	chr20:53184530-53184531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144127809	chr20:53184549-53184550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530657460	chr20:53184554-53184555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187444995	chr20:53184616-53184617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78097613	chr20:53184725-53184726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536244889	chr20:53184735-53184736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115155783	chr20:53184783-53184784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7263861	chr20:53184809-53184810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558762649	chr20:53184866-53184867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35873458	chr20:53184880-53184881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569004431	chr20:53184938-53184939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537998799	chr20:53184961-53184962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554647916	chr20:53184987-53184988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574704095	chr20:53185003-53185004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540638160	chr20:53185032-53185033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552962429	chr20:53185046-53185047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373222107	chr20:53185062-53185063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573117787	chr20:53185068-53185069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7270771	chr20:53185085-53185086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565117158	chr20:53185089-53185090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555685041	chr20:53185119-53185120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139801997	chr20:53185128-53185129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191219508	chr20:53185182-53185183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57406127	chr20:53185195-53185196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368005067	chr20:53185257-53185258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529621887	chr20:53185259-53185260	Weak transcription	n/a	n/a	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
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53167800-53189200	Weak transcription	Aorta	Aorta
2	chr20:53171200-53187800	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:53171400-53185800	Weak transcription	Fetal Brain Female	brain
4	chr20:53171600-53186800	Weak transcription	Brain Anterior Caudate	brain
5	chr20:53179800-53190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:53181800-53187000	Weak transcription	Brain Germinal Matrix	brain
7	chr20:53182200-53185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr20:53182200-53188000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:53182800-53189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr20:53183400-53186200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:53183800-53185800	Weak transcription	Fetal Brain Male	brain

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