Variant report

Variant	nsv962536
Chromosome Location	chr2:212377065-212383716
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	chr2:212288710..212290756-chr2:212380740..212383126,2	MCF-7	breast:
2	chr2:212320246..212322831-chr2:212376794..212379145,2	MCF-7	breast:

Extended variants
information (count: 315 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571534160	chr2:212377066-212377067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537406982	chr2:212377097-212377098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144416619	chr2:212377110-212377111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148404615	chr2:212377112-212377113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35256083	chr2:212377172-212377173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386392482	chr2:212377173-212377174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386392483	chr2:212377181-212377182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56384141	chr2:212377182-212377183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536460188	chr2:212377194-212377195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542057639	chr2:212377243-212377244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60201104	chr2:212377257-212377258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573140083	chr2:212377278-212377279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527813077	chr2:212377309-212377310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572827555	chr2:212377327-212377328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558561396	chr2:212377347-212377348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574900823	chr2:212377348-212377349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193135717	chr2:212377373-212377374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560668914	chr2:212377419-212377420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574182834	chr2:212377439-212377440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11891684	chr2:212377465-212377466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543734924	chr2:212377466-212377467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559690253	chr2:212377474-212377475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528822336	chr2:212377512-212377513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551797706	chr2:212377516-212377517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202168072	chr2:212377519-212377520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184625874	chr2:212377533-212377534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530950350	chr2:212377540-212377541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550959987	chr2:212377578-212377579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35742302	chr2:212377620-212377621	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567794481	chr2:212377644-212377645	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536720823	chr2:212377645-212377646	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61631854	chr2:212377672-212377673	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189125372	chr2:212377711-212377712	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73073139	chr2:212377735-212377736	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12623444	chr2:212377759-212377760	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181537395	chr2:212377795-212377796	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531743994	chr2:212377828-212377829	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567166375	chr2:212377859-212377860	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537485166	chr2:212377865-212377866	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554124690	chr2:212377881-212377882	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111368252	chr2:212377886-212377887	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113828624	chr2:212377892-212377893	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560154023	chr2:212377957-212377958	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56686623	chr2:212377958-212377959	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147653515	chr2:212377970-212377971	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140483067	chr2:212377992-212377993	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560962419	chr2:212377994-212377995	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184206341	chr2:212378019-212378020	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544644656	chr2:212378042-212378043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561262765	chr2:212378063-212378064	Enhancers Flanking Active TSS	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212369400-212377600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:212374600-212377600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212375000-212377400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:212376400-212377600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:212376800-212377800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:212377000-212378400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:212377400-212377600	Enhancers	Fetal Kidney	kidney
8	chr2:212377400-212377800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:212377400-212377800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:212377400-212378400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:212377400-212378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:212377400-212378400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:212377600-212378000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:212377600-212378000	Flanking Active TSS	Fetal Kidney	kidney
15	chr2:212377600-212378400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:212377600-212378600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:212377600-212378600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:212378000-212378200	Enhancers	Fetal Kidney	kidney
19	chr2:212378000-212379000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:212378600-212380600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:212378600-212381600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:212381600-212383000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:212383000-212386600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links