Variant report

Variant	esv3413607
Chromosome Location	chr10:27569733-27577795
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	chr10:27531276..27533998-chr10:27572512..27575307,2	K562	blood:

Variant related genes	Relation type
ENSG00000262412	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562658087	chr10:27572435-27572436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17748862	chr10:27572440-27572441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs190833586	chr10:27572452-27572453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181634055	chr10:27572471-27572472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369573172	chr10:27572474-27572475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16927693	chr10:27572488-27572489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547951183	chr10:27572490-27572491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547361756	chr10:27572491-27572492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185861492	chr10:27572505-27572506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376869125	chr10:27572542-27572543	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs386742237	chr10:27572564-27572565	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12249115	chr10:27572565-27572566	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79033351	chr10:27572568-27572569	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576213070	chr10:27572599-27572600	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187875683	chr10:27572636-27572637	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555387625	chr10:27572637-27572638	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571936165	chr10:27572638-27572639	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138691924	chr10:27572662-27572663	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560645430	chr10:27572664-27572665	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577089257	chr10:27572671-27572672	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545996457	chr10:27572680-27572681	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535659889	chr10:27572749-27572750	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562697251	chr10:27572753-27572754	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190670148	chr10:27572757-27572758	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548269943	chr10:27572773-27572774	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184101568	chr10:27572780-27572781	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567911796	chr10:27572821-27572822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188902772	chr10:27572847-27572848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201203655	chr10:27572863-27572864	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547740611	chr10:27572926-27572927	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112992023	chr10:27572964-27572965	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570667115	chr10:27572971-27572972	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539701292	chr10:27573025-27573026	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12243280	chr10:27573033-27573034	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192444031	chr10:27573051-27573052	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535582770	chr10:27573066-27573067	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147525661	chr10:27573073-27573074	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184708611	chr10:27573095-27573096	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10829222	chr10:27573109-27573110	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs115575130	chr10:27573140-27573141	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538802711	chr10:27573152-27573153	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10829223	chr10:27573161-27573162	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs187389282	chr10:27573170-27573171	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs202053853	chr10:27573171-27573172	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562786168	chr10:27573172-27573173	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200245756	chr10:27573174-27573175	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs397741106	chr10:27573179-27573180	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75164592	chr10:27573232-27573233	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77539151	chr10:27573249-27573250	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562061910	chr10:27573250-27573251	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	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	chr10:27572400-27573200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr10:27573200-27574200	Enhancers	Liver	Liver
3	chr10:27574200-27580200	Weak transcription	Liver	Liver

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