Variant report

Variant	esv3421142
Chromosome Location	chr8:52270899-52275097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs564129399	chr8:52270919-52270920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76695896	chr8:52270936-52270937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386725282	chr8:52270968-52270969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112014231	chr8:52270969-52270970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2976992	chr8:52270970-52270971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2976993	chr8:52270994-52270995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545371210	chr8:52271005-52271006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191849391	chr8:52271025-52271026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527647946	chr8:52271045-52271046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2915480	chr8:52271055-52271056	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570561490	chr8:52271067-52271068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78479780	chr8:52271068-52271069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556274865	chr8:52271072-52271073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16916077	chr8:52271089-52271090	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563153937	chr8:52271096-52271097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149468485	chr8:52271161-52271162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529021021	chr8:52271162-52271163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143877987	chr8:52271177-52271178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184448003	chr8:52271190-52271191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187627745	chr8:52271207-52271208	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576146447	chr8:52271214-52271215	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573444829	chr8:52271223-52271224	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548888814	chr8:52271224-52271225	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192480981	chr8:52271237-52271238	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542422840	chr8:52271240-52271241	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2976994	chr8:52271245-52271246	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527977126	chr8:52271271-52271272	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552495249	chr8:52271279-52271280	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148599790	chr8:52271305-52271306	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531623586	chr8:52271316-52271317	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373641925	chr8:52271362-52271363	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540431676	chr8:52271375-52271376	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551350124	chr8:52271424-52271425	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2976995	chr8:52271458-52271459	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1991691	chr8:52271470-52271471	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1991692	chr8:52271493-52271494	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371610470	chr8:52271523-52271524	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374396449	chr8:52271542-52271543	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1991693	chr8:52271549-52271550	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370283474	chr8:52271554-52271555	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539734212	chr8:52271572-52271573	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2915481	chr8:52271622-52271623	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576082894	chr8:52271674-52271675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10637777	chr8:52271714-52271715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35510763	chr8:52271715-52271716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397727963	chr8:52271721-52271722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543463061	chr8:52271730-52271731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10107247	chr8:52271745-52271746	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368023979	chr8:52271753-52271754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3097704	chr8:52271763-52271764	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52262200-52275600	Weak transcription	Right Atrium	heart
2	chr8:52264200-52284200	Weak transcription	Right Ventricle	heart
3	chr8:52264400-52271000	Weak transcription	Left Ventricle	heart
4	chr8:52269000-52271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:52270000-52273200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:52270000-52275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:52271000-52271800	Strong transcription	Left Ventricle	heart
8	chr8:52271200-52271400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:52271200-52271600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:52271200-52271600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:52271200-52271600	ZNF genes & repeats	Aorta	Aorta
12	chr8:52271600-52276200	Weak transcription	Aorta	Aorta
13	chr8:52271800-52284200	Weak transcription	Left Ventricle	heart
14	chr8:52272000-52272800	Weak transcription	Fetal Lung	lung
15	chr8:52272600-52273800	Active TSS	Fetal Heart	heart
16	chr8:52272800-52273200	ZNF genes & repeats	Fetal Brain Male	brain
17	chr8:52272800-52273200	ZNF genes & repeats	Fetal Lung	lung
18	chr8:52272800-52273600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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