Variant report

Variant	nsv975504
Chromosome Location	chr12:63448445-63449847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:63448487-63448600	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63327630..63329589-chr12:63447421..63451204,3	MCF-7	breast:
2	chr12:63441982..63444906-chr12:63445310..63449145,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AVPR1A-3	chr12:63449055-63449545	NONHSAT029105

Variant related genes	Relation type
RSL24D1P5	TF binding region
ENSG00000111110	chromatin interactions
ENSG00000252660	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368424397	chr12:63448448-63448449	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185419372	chr12:63448524-63448525	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369058474	chr12:63448546-63448547	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115591373	chr12:63448592-63448593	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545170480	chr12:63448641-63448642	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564869112	chr12:63448660-63448661	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10877948	chr12:63448684-63448685	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144942200	chr12:63448696-63448697	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141043945	chr12:63448713-63448714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144753225	chr12:63448722-63448723	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190716406	chr12:63448728-63448729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372544841	chr12:63448838-63448839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138769846	chr12:63448842-63448843	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549179756	chr12:63448852-63448853	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576905395	chr12:63448855-63448856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531754154	chr12:63448858-63448859	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551949091	chr12:63448861-63448862	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141812865	chr12:63448880-63448881	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181964905	chr12:63448926-63448927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548127408	chr12:63448934-63448935	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557228072	chr12:63449060-63449061	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs565080738	chr12:63449071-63449072	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs143240855	chr12:63449118-63449119	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs555918777	chr12:63449151-63449152	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs576076384	chr12:63449152-63449153	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs538399301	chr12:63449153-63449154	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs558281273	chr12:63449173-63449174	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs148286141	chr12:63449174-63449175	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs527542617	chr12:63449213-63449214	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs76257099	chr12:63449222-63449223	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs541226622	chr12:63449243-63449244	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs184272095	chr12:63449268-63449269	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs141414385	chr12:63449308-63449309	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs542999773	chr12:63449335-63449336	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs377754947	chr12:63449347-63449348	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs562789854	chr12:63449350-63449351	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs531784011	chr12:63449381-63449382	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs560986499	chr12:63449392-63449393	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs565447343	chr12:63449482-63449483	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs530033271	chr12:63449515-63449516	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs549779681	chr12:63449531-63449532	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs548040701	chr12:63449669-63449670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567935851	chr12:63449684-63449685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs150862820	chr12:63449688-63449689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549744740	chr12:63449729-63449730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569550442	chr12:63449731-63449732	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3847909	chr12:63449744-63449745	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs114328033	chr12:63449764-63449765	Inactive region	Chromatin interactive region	2 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
Breast cancer	21364760	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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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