Variant report

Variant	esv1987205
Chromosome Location	chr8:39852051-39852430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531312343	chr8:39852067-39852068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187289642	chr8:39852068-39852069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542901838	chr8:39852069-39852070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564532867	chr8:39852142-39852143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71733597	chr8:39852173-39852174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1421215	chr8:39852174-39852175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373549291	chr8:39852178-39852179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369250959	chr8:39852206-39852207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373466223	chr8:39852207-39852208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376164410	chr8:39852210-39852211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368996472	chr8:39852212-39852213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561066957	chr8:39852234-39852235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112458733	chr8:39852247-39852248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529869133	chr8:39852274-39852275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78565504	chr8:39852326-39852327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549712620	chr8:39852361-39852362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184381840	chr8:39852413-39852414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	21979893	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
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39843000-39853000	Weak transcription	Lung	lung
3	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:39849000-39853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:39849800-39853600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
8	chr8:39851200-39853600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:39851200-39853600	Weak transcription	A549	lung
10	chr8:39851400-39853800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:39851400-39856000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:39852200-39853600	Weak transcription	Primary monocytes fromperipheralblood	blood

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