Variant report

Variant	esv2762074
Chromosome Location	chr20:41131791-41140138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:115299973..115301920-chr20:41130457..41133153,2	MCF-7	breast:
2	chr1:115211782..115214223-chr20:41134419..41137022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175984	chromatin interactions
ENSG00000009307	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs7273823	chr20:41131797-41131798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs386814264	chr20:41131819-41131820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113055839	chr20:41131820-41131821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs230163	chr20:41131821-41131822	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6102869	chr20:41131852-41131853	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543925974	chr20:41131870-41131871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200712492	chr20:41131882-41131883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3091700	chr20:41131883-41131884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs397839568	chr20:41131888-41131889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2205938	chr20:41131892-41131893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529214923	chr20:41131898-41131899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182407319	chr20:41131909-41131910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560139308	chr20:41131930-41131931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138605594	chr20:41132050-41132051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548252571	chr20:41132086-41132087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562085025	chr20:41132116-41132117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374657226	chr20:41132200-41132201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187412867	chr20:41132212-41132213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367708447	chr20:41132225-41132226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149296460	chr20:41132288-41132289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368760589	chr20:41132298-41132299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571047123	chr20:41132388-41132389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6016813	chr20:41132390-41132391	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114419045	chr20:41132415-41132416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs230164	chr20:41132442-41132443	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536163152	chr20:41132455-41132456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555037116	chr20:41132480-41132481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377235046	chr20:41132510-41132511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537535962	chr20:41132515-41132516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557473787	chr20:41132526-41132527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552721647	chr20:41132581-41132582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570816784	chr20:41132590-41132591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577319880	chr20:41132617-41132618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540010389	chr20:41132665-41132666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369922873	chr20:41132704-41132705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560308590	chr20:41132746-41132747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573823707	chr20:41132804-41132805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542934565	chr20:41132840-41132841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190996599	chr20:41132860-41132861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6102870	chr20:41132869-41132870	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182423262	chr20:41132916-41132917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570848375	chr20:41132948-41132949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533476413	chr20:41132952-41132953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546722259	chr20:41132976-41132977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546845286	chr20:41132987-41132988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144516773	chr20:41133072-41133073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568724515	chr20:41133076-41133077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536029082	chr20:41133103-41133104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527327385	chr20:41134440-41134441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191186976	chr20:41134504-41134505	Inactive region	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
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
Soft tissue tumor	16732325	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
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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