Variant report

Variant	esv2040280
Chromosome Location	chr4:48249539-48249551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48248891..48252665-chr4:48270333..48273467,3	MCF-7	breast:
2	chr4:48247444..48251511-chr4:48269586..48272868,4	K562	blood:
3	chr4:48248411..48250691-chr4:48255149..48257827,3	K562	blood:
4	chr4:48248192..48249902-chr4:48342443..48344604,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	chromatin interactions
ENSG00000109171	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 59 )

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	rs139173089	chr4:48249539-48249540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573257731	chr4:48249540-48249541	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48242600-48252600	Weak transcription	Aorta	Aorta
2	chr4:48245800-48250200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:48246400-48249600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:48248800-48255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:48249000-48249600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:48249000-48249600	Enhancers	Primary B cells from cord blood	blood
8	chr4:48249000-48249800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:48249000-48250600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:48249000-48250600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:48249200-48249600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:48249200-48249600	Flanking Active TSS	K562	blood
13	chr4:48249200-48249600	Enhancers	NHLF	lung
14	chr4:48249200-48249800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:48249200-48249800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:48249200-48249800	Enhancers	NHDF-Ad	bronchial
17	chr4:48249200-48250400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:48249200-48250400	Enhancers	Fetal Heart	heart
19	chr4:48249400-48250200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:48249400-48250600	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:48249400-48251000	Flanking Active TSS	GM12878-XiMat	blood

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