Variant report

Variant	esv3336392
Chromosome Location	chr4:20602945-20603363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377666530	chr4:20602961-20602962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548698492	chr4:20602970-20602971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566744938	chr4:20603002-20603003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534232592	chr4:20603003-20603004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115140635	chr4:20603011-20603012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530140600	chr4:20603025-20603026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187270344	chr4:20603028-20603029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190876559	chr4:20603031-20603032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538955815	chr4:20603139-20603140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557169416	chr4:20603153-20603154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7683520	chr4:20603159-20603160	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542345947	chr4:20603196-20603197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561082889	chr4:20603212-20603213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202163743	chr4:20603241-20603242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11734883	chr4:20603276-20603277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572851889	chr4:20603289-20603290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539799617	chr4:20603326-20603327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164919	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
2	chr4:20567000-20604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:20567200-20605200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:20567200-20617000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:20578000-20617400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:20578200-20616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:20578400-20610000	Weak transcription	Fetal Brain Male	brain
8	chr4:20579400-20605600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:20589200-20610600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:20589200-20620800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:20590000-20620400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:20590800-20618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:20591400-20617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:20591600-20605200	Weak transcription	NHEK	skin
15	chr4:20593000-20619000	Weak transcription	Placenta	Placenta
16	chr4:20594400-20619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:20594600-20605200	Weak transcription	NHLF	lung
18	chr4:20594800-20603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:20594800-20620600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:20595000-20605400	Strong transcription	NHDF-Ad	bronchial
21	chr4:20595800-20604800	Weak transcription	Brain Anterior Caudate	brain
22	chr4:20596800-20605200	Weak transcription	HUVEC	blood vessel
23	chr4:20597800-20624600	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:20598400-20605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:20598400-20615000	Weak transcription	Fetal Stomach	stomach
26	chr4:20598600-20619200	Weak transcription	Ovary	ovary
27	chr4:20600400-20614800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:20600400-20619000	Weak transcription	Fetal Kidney	kidney
29	chr4:20600600-20610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:20600600-20617200	Weak transcription	Aorta	Aorta
31	chr4:20600800-20603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:20600800-20604800	Weak transcription	Osteobl	bone
33	chr4:20600800-20614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:20600800-20616600	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:20600800-20619000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:20602600-20603400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:20602600-20605800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:20602800-20604600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:20602800-20605200	Strong transcription	Fetal Lung	lung
40	chr4:20603000-20604800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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