Variant report

Variant	esv3361005
Chromosome Location	chr8:54528650-54529312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547692808	chr8:54528670-54528671	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386725491	chr8:54528702-54528703	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117046731	chr8:54528703-54528704	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374294301	chr8:54528736-54528737	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377655932	chr8:54528737-54528738	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370928325	chr8:54528738-54528739	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386725492	chr8:54528740-54528741	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550484536	chr8:54528752-54528753	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6473864	chr8:54528760-54528761	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs537817995	chr8:54528798-54528799	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187516753	chr8:54528804-54528805	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368366467	chr8:54528818-54528819	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192077062	chr8:54528894-54528895	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553695430	chr8:54528974-54528975	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6473865	chr8:54528984-54528985	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545740014	chr8:54528998-54528999	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142300567	chr8:54529011-54529012	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6473866	chr8:54529032-54529033	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374897600	chr8:54529036-54529037	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6473867	chr8:54529054-54529055	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150853380	chr8:54529063-54529064	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541472461	chr8:54529064-54529065	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185090654	chr8:54529068-54529069	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369992365	chr8:54529083-54529084	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114479515	chr8:54529099-54529100	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6473868	chr8:54529100-54529101	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539470064	chr8:54529105-54529106	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7009049	chr8:54529129-54529130	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548211460	chr8:54529171-54529172	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6990694	chr8:54529173-54529174	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7008144	chr8:54529240-54529241	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376715892	chr8:54529247-54529248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547468900	chr8:54529251-54529252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs35886891	chr8:54529275-54529276	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75571959	chr8:54529277-54529278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539236767	chr8:54529294-54529295	Weak transcription ZNF genes & repeats	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54522400-54528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:54528000-54529000	Enhancers	Pancreas	Pancrea
3	chr8:54528200-54529000	Enhancers	Fetal Lung	lung
4	chr8:54528200-54529200	Enhancers	Placenta	Placenta
5	chr8:54528200-54529400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:54528400-54530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:54528400-54532000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:54528800-54529000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:54528800-54529200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:54528800-54529200	Active TSS	Fetal Heart	heart
11	chr8:54529000-54530400	Weak transcription	Fetal Lung	lung
12	chr8:54529000-54531600	Weak transcription	Pancreas	Pancrea
13	chr8:54529200-54530000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:54529200-54531400	Weak transcription	Fetal Heart	heart

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