Variant report

Variant	nsv519556
Chromosome Location	chr2:213165193-213169190
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	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17346933	chr2:213165193-213165194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539449144	chr2:213165196-213165197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534407957	chr2:213168669-213168670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554385626	chr2:213168697-213168698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571005643	chr2:213168721-213168722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530249102	chr2:213168762-213168763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7588550	chr2:213168768-213168769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
8	rs16848289	chr2:213168797-213168798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368673646	chr2:213168844-213168845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566829747	chr2:213168877-213168878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34231570	chr2:213168904-213168905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538997075	chr2:213168921-213168922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140379192	chr2:213168966-213168967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571994697	chr2:213168988-213168989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557459909	chr2:213168997-213168998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59043697	chr2:213169008-213169009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78131946	chr2:213169028-213169029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543159828	chr2:213169106-213169107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144226965	chr2:213169112-213169113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528902982	chr2:213169143-213169144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112040087	chr2:213169158-213169159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562401795	chr2:213169176-213169177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7562228	chr2:213169190-213169191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213164800-213165200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:213168600-213168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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