Variant report

Variant	esv2150707
Chromosome Location	chr4:8263276-8263279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8261994..8265646-chr4:8266271..8270310,6	MCF-7	breast:
2	chr4:8252135..8255007-chr4:8262927..8264616,3	K562	blood:
3	chr4:8242105..8244343-chr4:8260959..8263973,3	MCF-7	breast:
4	chr4:8252135..8254748-chr4:8262223..8264616,3	K562	blood:
5	chr4:8261913..8264810-chr4:8267913..8270603,2	K562	blood:
6	chr4:8262200..8264510-chr4:8428848..8430829,2	MCF-7	breast:
7	chr4:8263022..8264524-chr4:8271054..8272671,2	MCF-7	breast:
8	chr4:8261537..8264221-chr4:8264274..8265849,2	MCF-7	breast:
9	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125089	chromatin interactions
ENSG00000087008	chromatin interactions
ENSG00000170801	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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	rs150250422	chr4:8263276-8263277	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8249800-8268400	Weak transcription	Right Atrium	heart
2	chr4:8249800-8268600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:8254800-8271600	Weak transcription	Gastric	stomach
4	chr4:8256000-8264800	Enhancers	Fetal Muscle Leg	muscle
5	chr4:8258000-8263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:8258000-8271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:8259600-8264800	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:8259600-8264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:8260400-8263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:8260400-8265400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8260800-8263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:8261400-8265400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:8261800-8263600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:8261800-8264600	Enhancers	Placenta	Placenta
15	chr4:8261800-8265400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:8262000-8263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:8262000-8263400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:8262000-8264000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:8262400-8263400	Bivalent Enhancer	HepG2	liver
20	chr4:8262400-8264200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:8262600-8263400	Enhancers	NHLF	lung
22	chr4:8262600-8263600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:8262600-8263600	Enhancers	HSMM	muscle
24	chr4:8262600-8263600	Enhancers	NH-A	brain
25	chr4:8262600-8263800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:8262600-8263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:8262600-8264200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:8262600-8264200	Enhancers	Osteobl	bone
29	chr4:8262600-8264600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:8262600-8265200	Enhancers	Spleen	Spleen
31	chr4:8262800-8263800	Enhancers	Lung	lung
32	chr4:8262800-8264000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:8262800-8264200	Enhancers	Fetal Thymus	thymus
34	chr4:8262800-8264800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:8262800-8265400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:8263000-8264800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr4:8263000-8268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:8263000-8268400	Weak transcription	Fetal Lung	lung
39	chr4:8263000-8268400	Weak transcription	Right Ventricle	heart
40	chr4:8263000-8268600	Weak transcription	A549	lung
41	chr4:8263000-8269200	Weak transcription	Esophagus	oesophagus
42	chr4:8263200-8265000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:8263200-8268400	Weak transcription	Adipose Nuclei	Adipose
44	chr4:8263200-8268400	Weak transcription	Stomach Smooth Muscle	stomach

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