Variant report

Variant	esv3491383
Chromosome Location	chr8:54583993-54586172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540597193	chr8:54583995-54583996	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs375013019	chr8:54584003-54584004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560612875	chr8:54584081-54584082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13259308	chr8:54584082-54584083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs569157858	chr8:54584093-54584094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113167937	chr8:54584094-54584095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200868777	chr8:54584111-54584112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200375262	chr8:54584113-54584114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61056000	chr8:54584114-54584115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563079042	chr8:54584141-54584142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143292858	chr8:54584154-54584155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548618683	chr8:54584159-54584160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540649106	chr8:54584160-54584161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562391337	chr8:54584199-54584200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540740381	chr8:54584318-54584319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186383226	chr8:54584393-54584394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562066546	chr8:54584420-54584421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6983168	chr8:54584436-54584437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs148288491	chr8:54584444-54584445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376734292	chr8:54584461-54584462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568970911	chr8:54584468-54584469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191288469	chr8:54584478-54584479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554592501	chr8:54584514-54584515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60541228	chr8:54584536-54584537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183530541	chr8:54584537-54584538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554219981	chr8:54584601-54584602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188579857	chr8:54584626-54584627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546343658	chr8:54584646-54584647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7008117	chr8:54584655-54584656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs191178239	chr8:54584680-54584681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58836051	chr8:54584686-54584687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533984459	chr8:54584730-54584731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183343086	chr8:54584747-54584748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367700180	chr8:54584755-54584756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554127446	chr8:54584795-54584796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186980098	chr8:54584798-54584799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533999542	chr8:54584825-54584826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559003118	chr8:54584831-54584832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7012669	chr8:54584965-54584966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73682533	chr8:54584975-54584976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75853308	chr8:54584985-54584986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78679118	chr8:54584986-54584987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75378731	chr8:54584987-54584988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559737613	chr8:54585024-54585025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4503065	chr8:54585067-54585068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558855310	chr8:54585068-54585069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529182618	chr8:54585098-54585099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551886004	chr8:54585129-54585130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568911336	chr8:54585131-54585132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375313943	chr8:54585134-54585135	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
low-grade B-cell lymphoma tumor	18367492	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54581200-54584600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:54581400-54584800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:54583000-54584600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54583400-54584000	Enhancers	Fetal Brain Female	brain
5	chr8:54583400-54584600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54583600-54584000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:54583600-54584000	Flanking Active TSS	Fetal Brain Male	brain
8	chr8:54583600-54584000	ZNF genes & repeats	Fetal Kidney	kidney
9	chr8:54583600-54584000	Active TSS	Fetal Lung	lung
10	chr8:54583800-54584000	Enhancers	Gastric	stomach
11	chr8:54583800-54584600	Weak transcription	Pancreas	Pancrea
12	chr8:54584000-54584600	Weak transcription	Fetal Brain Female	brain
13	chr8:54584000-54585000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:54584000-54585000	Enhancers	Fetal Brain Male	brain
15	chr8:54584400-54585200	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:54584400-54585400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:54584600-54584800	Enhancers	Fetal Brain Female	brain
18	chr8:54584600-54585000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:54584600-54585200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:54584600-54585200	Enhancers	Esophagus	oesophagus
21	chr8:54584600-54585200	Enhancers	Spleen	Spleen
22	chr8:54584600-54585400	Enhancers	GM12878-XiMat	blood
23	chr8:54584600-54585800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:54584600-54586000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:54585000-54585200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:54585000-54585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:54585200-54585800	Enhancers	Left Ventricle	heart

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