Variant report

Variant	esv5250
Chromosome Location	chr2:209451660-209452115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209436667..209438687-chr2:209450893..209452499,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12613146	chr2:209451694-209451695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112029927	chr2:209451732-209451733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112499496	chr2:209451733-209451734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561119371	chr2:209452014-209452015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113326760	chr2:209452025-209452026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535333248	chr2:209452027-209452028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113719397	chr2:209452034-209452035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578157278	chr2:209452040-209452041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201580442	chr2:209452043-209452044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199566691	chr2:209452044-209452045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116035046	chr2:209452082-209452083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557066517	chr2:209452096-209452097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209438800-209459400	Weak transcription	K562	blood
2	chr2:209449400-209458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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