Variant report

Variant	esv1827446
Chromosome Location	chr8:39220604-39231641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557203103	chr8:39221024-39221025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558666441	chr8:39221051-39221052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4236761	chr8:39221085-39221086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536090914	chr8:39221094-39221095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553132055	chr8:39221171-39221172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553926295	chr8:39221195-39221196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73610581	chr8:39221197-39221198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140658703	chr8:39221279-39221280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572239789	chr8:39221316-39221317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147895098	chr8:39221438-39221439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562181031	chr8:39221440-39221441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367941434	chr8:39221486-39221487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141353772	chr8:39221600-39221601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371849740	chr8:39221636-39221637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192835471	chr8:39221666-39221667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564798131	chr8:39221734-39221735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533499126	chr8:39221765-39221766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370999851	chr8:39221776-39221777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185196366	chr8:39221798-39221799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145258919	chr8:39221828-39221829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528095982	chr8:39221841-39221842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77844446	chr8:39221844-39221845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76212174	chr8:39221867-39221868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536825842	chr8:39221913-39221914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550549159	chr8:39221917-39221918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570715752	chr8:39221960-39221961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562056434	chr8:39221962-39221963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150979143	chr8:39221973-39221974	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20932292	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39221000-39222000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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