Variant report

Variant	esv1807499
Chromosome Location	chr20:53598394-53604668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155099117..155101296-chr20:53597259..53598792,2	MCF-7	breast:
2	chr20:53596926..53599724-chr20:53601086..53602936,2	K562	blood:
3	chr20:53596926..53599724-chr20:53601086..53602936,2	K562	blood:

Variant related genes	Relation type
ENSG00000169242	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs12106140	chr20:53598394-53598395	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140856409	chr20:53598482-53598483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558850077	chr20:53598483-53598484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs17000470	chr20:53598487-53598488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537862136	chr20:53598566-53598567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368773583	chr20:53598575-53598576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554322601	chr20:53598597-53598598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73624170	chr20:53598601-53598602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544023054	chr20:53598604-53598605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548464280	chr20:53598687-53598688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540371508	chr20:53598715-53598716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553993643	chr20:53598746-53598747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577139932	chr20:53598764-53598765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546094793	chr20:53598776-53598777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527608913	chr20:53598809-53598810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530769995	chr20:53598814-53598815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187725366	chr20:53598840-53598841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35264921	chr20:53598854-53598855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6023759	chr20:53598881-53598882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138445610	chr20:53598891-53598892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546723470	chr20:53598895-53598896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566701179	chr20:53598903-53598904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532587900	chr20:53598927-53598928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73278430	chr20:53598994-53598995	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190729641	chr20:53599005-53599006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141673637	chr20:53599017-53599018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73278431	chr20:53599029-53599030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6098354	chr20:53599066-53599067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183365107	chr20:53599086-53599087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201547035	chr20:53599123-53599124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567998469	chr20:53599132-53599133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78014406	chr20:53599160-53599161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369313395	chr20:53599178-53599179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569817025	chr20:53599185-53599186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547285247	chr20:53599190-53599191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6098355	chr20:53599218-53599219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6098356	chr20:53599242-53599243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567162953	chr20:53599252-53599253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539655765	chr20:53599264-53599265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186546185	chr20:53599282-53599283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143408943	chr20:53599288-53599289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541797232	chr20:53599289-53599290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561316672	chr20:53599298-53599299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574521157	chr20:53599368-53599369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148369912	chr20:53599415-53599416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6127346	chr20:53599419-53599420	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369655214	chr20:53599427-53599428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374541883	chr20:53599443-53599444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192785486	chr20:53599478-53599479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552351581	chr20:53599501-53599502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53597000-53598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:53597600-53599600	Weak transcription	Fetal Kidney	kidney
3	chr20:53598800-53599600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:53599600-53599800	Enhancers	Fetal Kidney	kidney
5	chr20:53599600-53600800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:53599800-53600800	Weak transcription	Fetal Kidney	kidney
7	chr20:53600800-53601000	Enhancers	Fetal Kidney	kidney
8	chr20:53600800-53601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:53600800-53602000	Enhancers	Sigmoid Colon	Sigmoid Colon

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