Variant report

Variant	esv3332920
Chromosome Location	chr2:212555305-212555873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543371574	chr2:212555322-212555323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563157785	chr2:212555335-212555336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372938231	chr2:212555339-212555340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376977319	chr2:212555343-212555344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569389251	chr2:212555355-212555356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139566715	chr2:212555356-212555357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548908770	chr2:212555410-212555411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143052557	chr2:212555448-212555449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146140593	chr2:212555454-212555455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548036730	chr2:212555479-212555480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570907314	chr2:212555499-212555500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539567037	chr2:212555524-212555525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386654777	chr2:212555555-212555556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76265025	chr2:212555556-212555557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535326793	chr2:212555585-212555586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192950214	chr2:212555651-212555652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375755105	chr2:212555680-212555681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371615984	chr2:212555699-212555700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374571902	chr2:212555716-212555717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540807549	chr2:212555717-212555718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35314763	chr2:212555747-212555748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78854793	chr2:212555817-212555818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530187461	chr2:212555818-212555819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7426203	chr2:212555823-212555824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148797526	chr2:212555826-212555827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73082621	chr2:212555845-212555846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370699347	chr2:212555865-212555866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375408481	chr2:212555867-212555868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212547200-212568600	Weak transcription	Fetal Kidney	kidney
2	chr2:212550400-212569000	Weak transcription	Fetal Heart	heart
3	chr2:212552400-212558400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:212555200-212575400	Weak transcription	Aorta	Aorta

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