Variant report

Variant	esv3430162
Chromosome Location	chr8:95919192-95919338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95907089..95909246-chr8:95918351..95920995,2	MCF-7	breast:
2	chr8:95907392..95910679-chr8:95917896..95921327,5	K562	blood:
3	chr8:95905635..95908338-chr8:95917636..95919532,2	MCF-7	breast:
4	chr8:95918169..95919782-chr8:95960752..95962481,2	MCF-7	breast:
5	chr8:95911771..95913789-chr8:95918971..95920628,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175305	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000164938	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 109 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549790031	chr8:95919226-95919227	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs7820818	chr8:95919231-95919232	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
3	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:95909400-95941000	Weak transcription	Ovary	ovary
5	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
6	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
7	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
11	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
13	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
15	chr8:95913600-95930200	Weak transcription	Brain Germinal Matrix	brain
16	chr8:95913600-95932600	Weak transcription	Fetal Brain Male	brain
17	chr8:95917000-95919600	Weak transcription	HSMM	muscle
18	chr8:95917200-95920600	Enhancers	Fetal Intestine Small	intestine
19	chr8:95917400-95919400	Enhancers	HepG2	liver
20	chr8:95917400-95920400	Enhancers	Fetal Intestine Large	intestine
21	chr8:95917400-95921400	Weak transcription	K562	blood
22	chr8:95917600-95919400	Enhancers	Liver	Liver
23	chr8:95917800-95919800	Strong transcription	Dnd41	blood
24	chr8:95917800-95920200	Enhancers	Stomach Mucosa	stomach
25	chr8:95918000-95919400	Strong transcription	Fetal Thymus	thymus
26	chr8:95918000-95919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:95918000-95925400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:95918000-95940200	Weak transcription	Brain Anterior Caudate	brain
29	chr8:95918200-95919800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:95918600-95919200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:95918600-95919400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:95918600-95933400	Weak transcription	Right Ventricle	heart
33	chr8:95918600-95947400	Weak transcription	Small Intestine	intestine
34	chr8:95918800-95919200	Genic enhancers	Primary hematopoietic stem cells	blood
35	chr8:95918800-95919200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr8:95918800-95919400	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:95918800-95919800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:95918800-95931800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:95918800-95935200	Weak transcription	Primary B cells from cord blood	blood
40	chr8:95919000-95919200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:95919000-95920400	Weak transcription	Gastric	stomach
42	chr8:95919000-95941200	Weak transcription	Left Ventricle	heart
43	chr8:95919200-95919600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:95919200-95920000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:95919200-95920600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:95919200-95921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:95919200-95928000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:95919200-95935200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:95919200-95948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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