Variant report

Variant	esv3461063
Chromosome Location	chr10:5249893-5250995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5247043..5249924-chr10:5250707..5254146,4	K562	blood:
2	chr10:5248069..5249924-chr10:5250712..5252871,2	K562	blood:
3	chr10:5250240..5252491-chr10:5252736..5256514,3	K562	blood:

Variant related genes	Relation type
ENSG00000228291	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562871242	chr10:5249915-5249916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35283379	chr10:5249929-5249930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78274239	chr10:5249979-5249980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113660940	chr10:5249983-5249984	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560545624	chr10:5249989-5249990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79860753	chr10:5250007-5250008	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11253044	chr10:5250025-5250026	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200173900	chr10:5250030-5250031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72638710	chr10:5250037-5250038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369777134	chr10:5250038-5250039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568251590	chr10:5250131-5250132	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147289401	chr10:5250149-5250150	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12771394	chr10:5250187-5250188	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186171241	chr10:5250201-5250202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189851122	chr10:5250205-5250206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75704858	chr10:5250214-5250215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557274819	chr10:5250243-5250244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566509023	chr10:5250267-5250268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182257185	chr10:5250277-5250278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555079975	chr10:5250358-5250359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1413624	chr10:5250363-5250364	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544374660	chr10:5250372-5250373	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79486928	chr10:5250398-5250399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1931679	chr10:5250453-5250454	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73603573	chr10:5250465-5250466	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528673356	chr10:5250470-5250471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547639513	chr10:5250480-5250481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560280736	chr10:5250482-5250483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140941330	chr10:5250498-5250499	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527722875	chr10:5250507-5250508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542411824	chr10:5250534-5250535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542738860	chr10:5250535-5250536	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35917693	chr10:5250632-5250633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576817218	chr10:5250679-5250680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565940600	chr10:5250699-5250700	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545928914	chr10:5250732-5250733	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550760205	chr10:5250754-5250755	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569078076	chr10:5250768-5250769	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533074669	chr10:5250781-5250782	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571394151	chr10:5250871-5250872	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35154936	chr10:5250872-5250873	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537065276	chr10:5250876-5250877	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551694619	chr10:5250890-5250891	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116916986	chr10:5250891-5250892	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10795255	chr10:5250919-5250920	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554967077	chr10:5250921-5250922	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114021257	chr10:5250929-5250930	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5239800-5251800	Weak transcription	Stomach Mucosa	stomach
2	chr10:5240800-5253000	Weak transcription	A549	lung
3	chr10:5245000-5252200	Strong transcription	Liver	Liver

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