Variant report

Variant	nsv973084
Chromosome Location	chr12:64670913-64671689
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	chr12:64670449..64671990-chr12:64789105..64792055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243024	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376995018	chr12:64670924-64670925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547959572	chr12:64670929-64670930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541660320	chr12:64670933-64670934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144134546	chr12:64670941-64670942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561303963	chr12:64670958-64670959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529851281	chr12:64670984-64670985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190941942	chr12:64671004-64671005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11175308	chr12:64671037-64671038	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372106449	chr12:64671047-64671048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532101723	chr12:64671049-64671050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4763149	chr12:64671067-64671068	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4763150	chr12:64671135-64671136	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17100256	chr12:64671177-64671178	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149577587	chr12:64671192-64671193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567878489	chr12:64671310-64671311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536370876	chr12:64671333-64671334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574333946	chr12:64671347-64671348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73327138	chr12:64671361-64671362	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569724324	chr12:64671368-64671369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543049999	chr12:64671376-64671377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372543219	chr12:64671380-64671381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370523365	chr12:64671411-64671412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373337237	chr12:64671412-64671413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72525665	chr12:64671420-64671421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115148445	chr12:64671428-64671429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34120343	chr12:64671429-64671430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3057140	chr12:64671430-64671431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73327140	chr12:64671466-64671467	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111991205	chr12:64671547-64671548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572729306	chr12:64671551-64671552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199980430	chr12:64671627-64671628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200625777	chr12:64671632-64671633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534993082	chr12:64671662-64671663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64667600-64694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:64668000-64677200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:64668000-64687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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