Variant report

Variant	esv2563012
Chromosome Location	chr10:4686396-4688007
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	chr10:4681477..4684219-chr10:4687339..4690160,2	K562	blood:
2	chr10:3826834..3829522-chr10:4687271..4690305,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-8	chr10:4687619-4688512	NONHSAT011105

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537721033	chr10:4686431-4686432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182716835	chr10:4686454-4686455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559001856	chr10:4686477-4686478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577352409	chr10:4686482-4686483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535258058	chr10:4686490-4686491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144693570	chr10:4686516-4686517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537166418	chr10:4686559-4686560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542755483	chr10:4686576-4686577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560896079	chr10:4686580-4686581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575972590	chr10:4686583-4686584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138279965	chr10:4686621-4686622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557080522	chr10:4686662-4686663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576971419	chr10:4686684-4686685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs313434	chr10:4686716-4686717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs313433	chr10:4686759-4686760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375715625	chr10:4686760-4686761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13376758	chr10:4686762-4686763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147272482	chr10:4686784-4686785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569998170	chr10:4686790-4686791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530844128	chr10:4686791-4686792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187783551	chr10:4686796-4686797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571206073	chr10:4686816-4686817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535219264	chr10:4686967-4686968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553562944	chr10:4686976-4686977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140768973	chr10:4686977-4686978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536227469	chr10:4687005-4687006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568675091	chr10:4687054-4687055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536327518	chr10:4687075-4687076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554385892	chr10:4687087-4687088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192350190	chr10:4687100-4687101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117377285	chr10:4687159-4687160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576294267	chr10:4687279-4687280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576769792	chr10:4687290-4687291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183681239	chr10:4687321-4687322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546073302	chr10:4687337-4687338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374683735	chr10:4687357-4687358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201039926	chr10:4687387-4687388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377736335	chr10:4687395-4687396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189284107	chr10:4687399-4687400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192663683	chr10:4687426-4687427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549906726	chr10:4687430-4687431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184934552	chr10:4687433-4687434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530930504	chr10:4687460-4687461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112425310	chr10:4687477-4687478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552328741	chr10:4687492-4687493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2088500	chr10:4687532-4687533	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150869878	chr10:4687533-4687534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577014966	chr10:4687564-4687565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553341159	chr10:4687623-4687624	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs534795550	chr10:4687654-4687655	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21611746	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:4680800-4692800	Weak transcription	Aorta	Aorta
4	chr10:4682800-4688800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:4682800-4690800	Weak transcription	Psoas Muscle	Psoas
6	chr10:4682800-4693800	Weak transcription	NHEK	skin
7	chr10:4682800-4694000	Weak transcription	HMEC	breast
8	chr10:4683800-4689000	Weak transcription	HUVEC	blood vessel
9	chr10:4684400-4692200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:4684600-4686600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:4685000-4686600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr10:4685800-4692600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:4686600-4687000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:4686800-4689200	Weak transcription	Adipose Nuclei	Adipose
15	chr10:4687000-4687400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:4687800-4688000	Enhancers	Fetal Kidney	kidney
17	chr10:4688000-4692600	Weak transcription	Fetal Kidney	kidney

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