Variant report

Variant	nsv520702
Chromosome Location	chr2:212292521-212299979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:212287473..212288501-chr2:212299594..212300619,4	MCF-7	breast:
2	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
3	chr2:212293615..212295597-chr2:212299966..212301687,2	MCF-7	breast:
4	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
5	chr2:212292912..212295358-chr2:212296478..212299091,2	MCF-7	breast:
6	chr2:212292912..212295358-chr2:212296478..212299091,2	MCF-7	breast:
7	chr2:212265066..212266731-chr2:212291564..212294489,2	MCF-7	breast:
8	chr2:212286937..212289642-chr2:212291657..212294876,4	MCF-7	breast:
9	chr2:212293615..212295597-chr2:212299966..212301687,2	MCF-7	breast:
10	chr2:212287546..212288501-chr2:212299663..212300619,3	MCF-7	breast:

No data

Extended variants
information (count: 311 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:311 , 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	rs16846140	chr2:212292521-212292522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570728666	chr2:212292534-212292535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57717911	chr2:212292562-212292563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539455134	chr2:212292570-212292571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193019798	chr2:212292611-212292612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375662606	chr2:212292634-212292635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572761902	chr2:212292652-212292653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202160563	chr2:212292667-212292668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553536975	chr2:212292668-212292669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34071141	chr2:212292678-212292679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201413384	chr2:212292679-212292680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1836717	chr2:212292699-212292700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112569369	chr2:212292740-212292741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560025151	chr2:212292768-212292769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185293922	chr2:212292782-212292783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116077860	chr2:212292797-212292798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554059532	chr2:212292844-212292845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189867278	chr2:212292897-212292898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1836716	chr2:212292929-212292930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151288078	chr2:212292936-212292937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58578011	chr2:212292964-212292965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55861364	chr2:212292968-212292969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56321438	chr2:212292969-212292970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562542402	chr2:212293023-212293024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4672613	chr2:212293044-212293045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367598206	chr2:212293083-212293084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113650693	chr2:212293084-212293085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541940614	chr2:212293094-212293095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368063037	chr2:212293101-212293102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372210141	chr2:212293107-212293108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377025026	chr2:212293108-212293109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368328351	chr2:212293114-212293115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549459863	chr2:212293117-212293118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74568702	chr2:212293119-212293120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377251473	chr2:212293129-212293130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368984080	chr2:212293139-212293140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146441207	chr2:212293146-212293147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149713914	chr2:212293178-212293179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181319801	chr2:212293180-212293181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372600395	chr2:212293243-212293244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533214729	chr2:212293262-212293263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549847426	chr2:212293273-212293274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569539966	chr2:212293311-212293312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184100525	chr2:212293361-212293362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146706895	chr2:212293431-212293432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535043724	chr2:212293432-212293433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565734408	chr2:212293537-212293538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534139155	chr2:212293588-212293589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188386799	chr2:212293652-212293653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140232378	chr2:212293696-212293697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212279400-212294600	Weak transcription	Fetal Heart	heart
2	chr2:212281600-212301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:212287000-212295400	Weak transcription	HUVEC	blood vessel
4	chr2:212288200-212292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212288200-212302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:212293600-212294200	Enhancers	Brain Substantia Nigra	brain
7	chr2:212294000-212294400	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:212294000-212294400	Enhancers	Brain Hippocampus Middle	brain
9	chr2:212294000-212294400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:212294000-212294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:212294200-212294600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:212294200-212294600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:212294200-212294600	Enhancers	Brain Anterior Caudate	brain
14	chr2:212295400-212296000	Enhancers	HUVEC	blood vessel
15	chr2:212299400-212300000	Weak transcription	Fetal Heart	heart
16	chr2:212299400-212300400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:212299800-212300200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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