Variant report

Variant	nsv821891
Chromosome Location	chr2:210255831-210256291
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	chr2:210251892..210254829-chr2:210256212..210260046,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10194421	chr2:210255863-210255864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188518630	chr2:210255910-210255911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540669220	chr2:210255916-210255917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530185945	chr2:210255944-210255945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531154186	chr2:210255956-210255957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533047870	chr2:210255980-210255981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549869882	chr2:210255989-210255990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527367776	chr2:210255990-210255991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569768104	chr2:210256061-210256062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548426893	chr2:210256073-210256074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181362083	chr2:210256111-210256112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76137394	chr2:210256112-210256113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11676811	chr2:210256157-210256158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs11457175	chr2:210256160-210256161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397772984	chr2:210256166-210256167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1446588	chr2:210256170-210256171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs141278792	chr2:210256194-210256195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553863247	chr2:210256234-210256235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570791353	chr2:210256243-210256244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210248800-210256000	Weak transcription	NHLF	lung
2	chr2:210254000-210256600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:210254400-210258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:210254800-210256000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:210255400-210257200	Enhancers	Liver	Liver
6	chr2:210255600-210256400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:210256000-210256200	Enhancers	NHLF	lung
8	chr2:210256000-210258000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:210256000-210258400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:210256200-210256600	Weak transcription	NHLF	lung

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