Variant report

Variant	esv3333052
Chromosome Location	chr8:54582299-54585397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544924877	chr8:54582310-54582311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564804511	chr8:54582322-54582323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538907051	chr8:54582408-54582409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189676955	chr8:54582410-54582411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538895337	chr8:54582411-54582412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549435546	chr8:54582414-54582415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566158886	chr8:54582415-54582416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544277241	chr8:54582416-54582417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561472490	chr8:54582476-54582477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11991573	chr8:54582515-54582516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547023859	chr8:54582545-54582546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575366050	chr8:54582546-54582547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532716777	chr8:54582550-54582551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552936191	chr8:54582591-54582592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569546778	chr8:54582644-54582645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59473857	chr8:54582663-54582664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114884657	chr8:54582676-54582677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567215024	chr8:54582706-54582707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78927254	chr8:54582762-54582763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181350898	chr8:54582787-54582788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572717528	chr8:54582808-54582809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34341358	chr8:54582824-54582825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564602144	chr8:54582856-54582857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558470666	chr8:54582859-54582860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147862124	chr8:54582872-54582873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550884483	chr8:54582880-54582881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141309865	chr8:54582883-54582884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115353731	chr8:54582891-54582892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530075974	chr8:54582892-54582893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540384872	chr8:54582917-54582918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560549955	chr8:54582918-54582919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371492125	chr8:54582950-54582951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528582097	chr8:54582978-54582979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116991748	chr8:54582983-54582984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112323839	chr8:54583017-54583018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373434307	chr8:54583052-54583053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569222623	chr8:54583065-54583066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573089569	chr8:54583084-54583085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146993286	chr8:54583096-54583097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13281202	chr8:54583149-54583150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565058364	chr8:54583163-54583164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368833350	chr8:54583169-54583170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530694473	chr8:54583194-54583195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138130749	chr8:54583196-54583197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548818191	chr8:54583263-54583264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373216768	chr8:54583264-54583265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114771252	chr8:54583328-54583329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7002636	chr8:54583373-54583374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546324671	chr8:54583432-54583433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59226801	chr8:54583507-54583508	Weak transcription 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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54571400-54583600	Weak transcription	Pancreas	Pancrea
2	chr8:54577800-54583600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54580000-54583400	Weak transcription	Fetal Brain Male	brain
4	chr8:54580600-54582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:54581200-54584600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:54581400-54584800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:54582000-54583000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54582000-54583400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:54582200-54582400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:54582400-54583000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:54582800-54583200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:54583000-54584600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54583400-54583600	Enhancers	Fetal Brain Male	brain
14	chr8:54583400-54584000	Enhancers	Fetal Brain Female	brain
15	chr8:54583400-54584600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:54583600-54583800	Enhancers	Pancreas	Pancrea
17	chr8:54583600-54584000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:54583600-54584000	Flanking Active TSS	Fetal Brain Male	brain
19	chr8:54583600-54584000	ZNF genes & repeats	Fetal Kidney	kidney
20	chr8:54583600-54584000	Active TSS	Fetal Lung	lung
21	chr8:54583800-54584000	Enhancers	Gastric	stomach
22	chr8:54583800-54584600	Weak transcription	Pancreas	Pancrea
23	chr8:54584000-54584600	Weak transcription	Fetal Brain Female	brain
24	chr8:54584000-54585000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:54584000-54585000	Enhancers	Fetal Brain Male	brain
26	chr8:54584400-54585200	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:54584400-54585400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:54584600-54584800	Enhancers	Fetal Brain Female	brain
29	chr8:54584600-54585000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:54584600-54585200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:54584600-54585200	Enhancers	Esophagus	oesophagus
32	chr8:54584600-54585200	Enhancers	Spleen	Spleen
33	chr8:54584600-54585400	Enhancers	GM12878-XiMat	blood
34	chr8:54584600-54585800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:54584600-54586000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:54585000-54585200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:54585000-54585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:54585200-54585800	Enhancers	Left Ventricle	heart

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