Variant report

Variant	esv3350042
Chromosome Location	chr4:20520953-20521429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547018609	chr4:20520959-20520960	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571807471	chr4:20520985-20520986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs519813	chr4:20520993-20520994	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs151000636	chr4:20521011-20521012	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551038171	chr4:20521029-20521030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140841349	chr4:20521078-20521079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569219255	chr4:20521104-20521105	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371872261	chr4:20521107-20521108	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536765272	chr4:20521114-20521115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373003451	chr4:20521118-20521119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149506523	chr4:20521125-20521126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573285514	chr4:20521133-20521134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534909054	chr4:20521158-20521159	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182874455	chr4:20521228-20521229	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143156071	chr4:20521229-20521230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148260115	chr4:20521252-20521253	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186646091	chr4:20521267-20521268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191430640	chr4:20521269-20521270	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574944437	chr4:20521282-20521283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112227330	chr4:20521289-20521290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187711184	chr4:20521300-20521301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370076848	chr4:20521312-20521313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532505717	chr4:20521318-20521319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375530929	chr4:20521346-20521347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560537127	chr4:20521421-20521422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
3	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:20492000-20534800	Weak transcription	Fetal Kidney	kidney
6	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
7	chr4:20494000-20522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:20507600-20522600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:20508600-20522600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:20508800-20534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:20509000-20522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:20512800-20522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:20513200-20534600	Weak transcription	Fetal Brain Male	brain
15	chr4:20514400-20522200	Weak transcription	Osteobl	bone
16	chr4:20515000-20522400	Weak transcription	NHEK	skin
17	chr4:20519400-20521000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
19	chr4:20519800-20522200	Weak transcription	NHDF-Ad	bronchial
20	chr4:20520600-20523200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:20520600-20526200	Strong transcription	Fetal Lung	lung
22	chr4:20520600-20539600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:20521000-20521400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:20521200-20535400	Weak transcription	Spleen	Spleen
25	chr4:20521400-20529600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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