Variant report

Variant	nsv975506
Chromosome Location	chr12:64265506-64268351
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	CTCF	chr12:64267190-64267251	GM20000	blood:	n/a	n/a
2	FOXA2	chr12:64266386-64266872	A549	lung:	n/a	chr12:64266594-64266606
3	POLR2A	chr12:64265625-64265752	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64265884..64268355-chr12:64269681..64272144,3	MCF-7	breast:
2	chr12:64263588..64265669-chr12:64273685..64275675,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY19L2-6	chr12:64265519-64265824	NONHSAT029123

Variant related genes	Relation type
RPL36AP41	TF binding region
ENSG00000256571	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545198900	chr12:64265508-64265509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564378849	chr12:64265512-64265513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533492436	chr12:64265575-64265576	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs546985037	chr12:64265582-64265583	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs560486922	chr12:64265587-64265588	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs529336200	chr12:64265642-64265643	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549686787	chr12:64265680-64265681	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs181994760	chr12:64265694-64265695	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs11175195	chr12:64265724-64265725	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376580229	chr12:64265771-64265772	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs571219452	chr12:64265776-64265777	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs11556533	chr12:64265841-64265842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11556536	chr12:64265847-64265848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145532231	chr12:64265864-64265865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7966445	chr12:64265927-64265928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372977032	chr12:64265937-64265938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567749311	chr12:64265953-64265954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186334983	chr12:64265972-64265973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556001429	chr12:64265987-64265988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147754448	chr12:64266031-64266032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544851068	chr12:64266039-64266040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558735147	chr12:64266061-64266062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536989120	chr12:64266085-64266086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550188151	chr12:64266111-64266112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540710723	chr12:64266126-64266127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570303063	chr12:64266167-64266168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560606884	chr12:64266193-64266194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35961300	chr12:64266195-64266196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77167120	chr12:64266209-64266210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551145380	chr12:64266223-64266224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373144180	chr12:64266263-64266264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111745136	chr12:64266278-64266279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56147475	chr12:64266364-64266365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563010019	chr12:64266431-64266432	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532047372	chr12:64266470-64266471	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs144205061	chr12:64266503-64266504	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs571789099	chr12:64266590-64266591	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527927145	chr12:64266611-64266612	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs375211841	chr12:64266616-64266617	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs558480915	chr12:64266689-64266690	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567032798	chr12:64266813-64266814	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188832828	chr12:64266849-64266850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs147760511	chr12:64266859-64266860	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569819409	chr12:64266960-64266961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538911712	chr12:64267008-64267009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558609108	chr12:64267031-64267032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181732899	chr12:64267036-64267037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186340089	chr12:64267037-64267038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554258876	chr12:64267076-64267077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574201269	chr12:64267084-64267085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21364760	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64241000-64268800	Weak transcription	Lung	lung
2	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
3	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
4	chr12:64247800-64268200	Weak transcription	Fetal Brain Male	brain
5	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
6	chr12:64256800-64271400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:64256800-64276600	Weak transcription	HSMM	muscle
8	chr12:64256800-64282600	Weak transcription	Gastric	stomach
9	chr12:64257400-64270600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:64258800-64286200	Weak transcription	Fetal Intestine Small	intestine
11	chr12:64259200-64266800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:64259800-64265600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:64261200-64268800	Weak transcription	Stomach Mucosa	stomach
14	chr12:64262600-64265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:64263200-64270800	Weak transcription	Pancreas	Pancrea
16	chr12:64263600-64267600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:64263600-64269000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:64263600-64278800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:64263800-64266400	Weak transcription	Fetal Heart	heart
20	chr12:64263800-64268800	Weak transcription	NHDF-Ad	bronchial
21	chr12:64263800-64276600	Weak transcription	NHLF	lung
22	chr12:64263800-64289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:64264000-64267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:64264000-64267800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:64264000-64268800	Weak transcription	Fetal Lung	lung
26	chr12:64264000-64271600	Weak transcription	Osteobl	bone
27	chr12:64264000-64276600	Weak transcription	HSMMtube	muscle
28	chr12:64264000-64279000	Weak transcription	NHEK	skin
29	chr12:64264000-64282600	Weak transcription	HMEC	breast
30	chr12:64264000-64294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:64264200-64265800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:64264200-64270200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:64264200-64271600	Weak transcription	Hela-S3	cervix
34	chr12:64264200-64282400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:64264600-64269200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:64264800-64265800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:64265200-64266200	Weak transcription	A549	lung
38	chr12:64265200-64269000	Weak transcription	Ovary	ovary
39	chr12:64265600-64265800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:64265600-64266800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:64265800-64266600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:64266200-64266800	Enhancers	A549	lung
43	chr12:64266400-64267000	Enhancers	Fetal Heart	heart
44	chr12:64266600-64268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:64266800-64269000	Weak transcription	A549	lung
46	chr12:64266800-64270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:64267000-64271800	Weak transcription	Fetal Heart	heart
48	chr12:64267600-64267800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:64267600-64268200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:64267600-64268800	Weak transcription	Esophagus	oesophagus

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