Variant report

Variant	esv3325574
Chromosome Location	chr8:49194699-49198997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs553041273	chr8:49194732-49194733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577661566	chr8:49194769-49194770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545004380	chr8:49194778-49194779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557031446	chr8:49194782-49194783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575908141	chr8:49194817-49194818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73573742	chr8:49194841-49194842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561554876	chr8:49194842-49194843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139550484	chr8:49194867-49194868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189593033	chr8:49194878-49194879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550743040	chr8:49194879-49194880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533021350	chr8:49194883-49194884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377210779	chr8:49194918-49194919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144419355	chr8:49194924-49194925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531432082	chr8:49194941-49194942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569523801	chr8:49194950-49194951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147837255	chr8:49194968-49194969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548992200	chr8:49194989-49194990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192442493	chr8:49195009-49195010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141485938	chr8:49195031-49195032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373022490	chr8:49195050-49195051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4077922	chr8:49195069-49195070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147033646	chr8:49195145-49195146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538710933	chr8:49195170-49195171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557345515	chr8:49195208-49195209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10957010	chr8:49195245-49195246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs80303879	chr8:49195256-49195257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149158740	chr8:49195258-49195259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143274436	chr8:49195259-49195260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569157443	chr8:49195303-49195304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565447269	chr8:49195311-49195312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78784724	chr8:49195318-49195319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544757547	chr8:49195319-49195320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185584953	chr8:49195395-49195396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563330787	chr8:49195454-49195455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530416287	chr8:49195459-49195460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115128693	chr8:49195560-49195561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11781996	chr8:49195694-49195695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570869212	chr8:49195772-49195773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528328372	chr8:49195774-49195775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113288093	chr8:49195781-49195782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201917966	chr8:49195802-49195803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539810091	chr8:49195824-49195825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13261342	chr8:49195847-49195848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571078391	chr8:49195856-49195857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538774676	chr8:49195857-49195858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570308921	chr8:49195969-49195970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550779207	chr8:49195974-49195975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375119475	chr8:49196044-49196045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13270488	chr8:49196047-49196048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533260697	chr8:49196050-49196051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Lung cancer	18438408	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
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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49186800-49199400	Weak transcription	Right Atrium	heart
3	chr8:49187200-49198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:49190800-49197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49191000-49195200	Enhancers	NHDF-Ad	bronchial
6	chr8:49191200-49197200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:49192000-49194800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49192000-49194800	Enhancers	NHEK	skin
9	chr8:49192000-49195000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:49192000-49195200	Enhancers	HMEC	breast
11	chr8:49192000-49195200	Enhancers	HUVEC	blood vessel
12	chr8:49192400-49197000	Enhancers	NHLF	lung
13	chr8:49193200-49196400	Weak transcription	Osteobl	bone
14	chr8:49193400-49194800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:49193400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:49194000-49195000	Enhancers	Fetal Lung	lung
17	chr8:49194000-49195000	Enhancers	NH-A	brain
18	chr8:49194200-49195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:49194400-49194800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:49194400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:49194400-49197000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:49194600-49194800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:49194600-49195000	Weak transcription	Fetal Stomach	stomach
24	chr8:49194800-49195200	Enhancers	Pancreas	Pancrea
25	chr8:49194800-49195400	Enhancers	Spleen	Spleen
26	chr8:49194800-49196200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:49194800-49196400	Weak transcription	NHEK	skin
28	chr8:49194800-49196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:49195000-49195800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:49195000-49196000	Weak transcription	NH-A	brain
31	chr8:49195000-49196600	Weak transcription	Fetal Lung	lung
32	chr8:49195000-49196800	Enhancers	Fetal Stomach	stomach
33	chr8:49195200-49196200	Weak transcription	HMEC	breast
34	chr8:49195200-49196200	Weak transcription	NHDF-Ad	bronchial
35	chr8:49195200-49196600	Weak transcription	HUVEC	blood vessel
36	chr8:49195400-49196600	Weak transcription	Spleen	Spleen
37	chr8:49195600-49196000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:49195800-49196600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:49196000-49197000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:49196000-49197000	Enhancers	NH-A	brain
41	chr8:49196200-49197000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:49196200-49197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:49196200-49197000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:49196200-49197000	Enhancers	HMEC	breast
45	chr8:49196200-49197200	Enhancers	NHDF-Ad	bronchial
46	chr8:49196400-49197000	Enhancers	NHEK	skin
47	chr8:49196400-49197000	Enhancers	Osteobl	bone
48	chr8:49196600-49197000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:49196600-49197000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:49196600-49197000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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