Variant report

Variant	esv1727381
Chromosome Location	chr8:48405599-48405601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48403369..48405723-chr8:48406802..48408473,2	K562	blood:
2	chr8:48404469..48406419-chr8:48408750..48411124,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 88 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137950730	chr8:48405600-48405601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Lung cancer	18438408	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
Pancreatic endocrine tumor	17639061	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
low-grade B-cell lymphoma tumor	18367492	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
small cell lung cancer	20016488	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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48393400-48410400	Weak transcription	Ovary	ovary
3	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
4	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
6	chr8:48397800-48406200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:48397800-48406600	Weak transcription	Esophagus	oesophagus
8	chr8:48397800-48410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:48397800-48410600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:48397800-48417600	Weak transcription	Gastric	stomach
11	chr8:48397800-48418200	Weak transcription	Dnd41	blood
12	chr8:48398000-48407200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:48398200-48410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:48398400-48411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:48398400-48411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:48398600-48407200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:48399000-48408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:48399000-48411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:48402200-48417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:48404200-48405800	Enhancers	Fetal Lung	lung
27	chr8:48404400-48405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:48404800-48421200	Weak transcription	Lung	lung
29	chr8:48405200-48409000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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