Variant report

Variant	esv1319504
Chromosome Location	chr4:20282471-20282472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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	rs398051112	chr4:20282472-20282473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:20273800-20286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:20274600-20285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:20274600-20286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:20274600-20288600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:20276400-20283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:20276400-20286000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:20277400-20283000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:20277400-20286400	Weak transcription	Osteobl	bone
12	chr4:20278400-20284400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:20278600-20283000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:20278600-20283400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:20278600-20283400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:20278800-20283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:20278800-20290400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:20278800-20298000	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:20281000-20282800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:20281400-20282600	Enhancers	Fetal Lung	lung
21	chr4:20281400-20282800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:20281400-20283200	Weak transcription	NHDF-Ad	bronchial
23	chr4:20281400-20285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20281600-20283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:20281800-20282800	Weak transcription	NHEK	skin
26	chr4:20281800-20294000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:20282200-20283600	Enhancers	Fetal Kidney	kidney
28	chr4:20282200-20286000	Enhancers	HUES6 Cell Line	embryonic stem cell

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