Variant report

Variant	nsv826440
Chromosome Location	chr12:76224278-76230703
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	chr12:76226887..76228730-chr12:76230537..76233430,2	K562	blood:
2	chr12:76221289..76223919-chr12:76225764..76227488,2	K562	blood:
3	chr12:76227140..76230036-chr12:76423955..76426849,3	MCF-7	breast:
4	chr12:76229938..76232810-chr12:76233252..76234908,2	K562	blood:
5	chr12:76217074..76218936-chr12:76228303..76230726,2	MCF-7	breast:
6	chr12:76226366..76229220-chr12:76231583..76233486,2	MCF-7	breast:
7	chr12:76227743..76229832-chr12:76253957..76255546,2	MCF-7	breast:
8	chr12:76228619..76231003-chr12:76370389..76372003,2	MCF-7	breast:
9	chr12:76218050..76221140-chr12:76222385..76226289,4	MCF-7	breast:
10	chr12:76226887..76228730-chr12:76230537..76233430,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139289	chromatin interactions
ENSG00000257453	chromatin interactions
ENSG00000257839	chromatin interactions

Extended variants
information (count: 246 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530485931	chr12:76224285-76224286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561833849	chr12:76224288-76224289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1291264	chr12:76224294-76224295	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143749732	chr12:76224336-76224337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550477917	chr12:76224347-76224348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560572530	chr12:76224353-76224354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189560246	chr12:76224358-76224359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370383213	chr12:76224364-76224365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142622540	chr12:76224365-76224366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146447092	chr12:76224369-76224370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532995628	chr12:76224379-76224380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532384076	chr12:76224418-76224419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546888844	chr12:76224438-76224439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7960165	chr12:76224528-76224529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74988115	chr12:76224565-76224566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73380942	chr12:76224636-76224637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186799279	chr12:76224640-76224641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553023448	chr12:76224694-76224695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71460148	chr12:76224708-76224709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544893390	chr12:76224753-76224754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1565771	chr12:76224756-76224757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12826245	chr12:76224769-76224770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12826096	chr12:76224772-76224773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12826242	chr12:76224801-76224802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375807084	chr12:76224828-76224829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544184384	chr12:76224858-76224859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560854816	chr12:76224895-76224896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568857452	chr12:76224982-76224983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547249911	chr12:76225003-76225004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557930013	chr12:76225004-76225005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560654019	chr12:76225008-76225009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532705061	chr12:76225029-76225030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377698248	chr12:76225037-76225038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571454535	chr12:76225090-76225091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568971669	chr12:76225097-76225098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537940188	chr12:76225114-76225115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548323166	chr12:76225136-76225137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150853370	chr12:76225158-76225159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138189526	chr12:76225213-76225214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553200236	chr12:76225261-76225262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112625697	chr12:76225301-76225302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145992895	chr12:76225312-76225313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552676927	chr12:76225314-76225315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11180704	chr12:76225334-76225335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192066278	chr12:76225360-76225361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181688467	chr12:76225370-76225371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575548796	chr12:76225381-76225382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544321152	chr12:76225410-76225411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374669689	chr12:76225422-76225423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560993625	chr12:76225464-76225465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76220200-76225200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:76220200-76225200	Weak transcription	Hela-S3	cervix
3	chr12:76220200-76225200	Weak transcription	NH-A	brain
4	chr12:76220400-76225200	Weak transcription	Osteobl	bone
5	chr12:76220400-76230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:76221200-76225000	Weak transcription	NHDF-Ad	bronchial
7	chr12:76221200-76225200	Weak transcription	NHLF	lung
8	chr12:76221200-76228200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:76221600-76228200	Weak transcription	NHEK	skin
10	chr12:76223800-76224600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:76224000-76224400	Weak transcription	Fetal Lung	lung
12	chr12:76224200-76225200	Weak transcription	HepG2	liver
13	chr12:76224400-76225800	Enhancers	Fetal Lung	lung
14	chr12:76224600-76225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:76225000-76225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:76225000-76225600	Enhancers	Fetal Muscle Leg	muscle
17	chr12:76225000-76225600	Enhancers	NHDF-Ad	bronchial
18	chr12:76225000-76225800	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:76225000-76226000	Enhancers	Fetal Heart	heart
20	chr12:76225000-76226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:76225200-76225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:76225200-76225600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:76225200-76225600	Enhancers	Ovary	ovary
24	chr12:76225200-76225600	Enhancers	Stomach Mucosa	stomach
25	chr12:76225200-76225600	Enhancers	Hela-S3	cervix
26	chr12:76225200-76225600	Enhancers	HepG2	liver
27	chr12:76225200-76225600	Enhancers	HUVEC	blood vessel
28	chr12:76225200-76225600	Enhancers	K562	blood
29	chr12:76225200-76225600	Enhancers	NH-A	brain
30	chr12:76225200-76225600	Enhancers	Osteobl	bone
31	chr12:76225200-76226800	Enhancers	NHLF	lung
32	chr12:76225400-76225600	Enhancers	Fetal Brain Female	brain
33	chr12:76225400-76225600	Enhancers	HSMMtube	muscle
34	chr12:76225600-76228400	Weak transcription	HUVEC	blood vessel
35	chr12:76225600-76229800	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:76225600-76230400	Weak transcription	HepG2	liver
37	chr12:76225600-76231400	Weak transcription	NHDF-Ad	bronchial
38	chr12:76225600-76234200	Weak transcription	Fetal Brain Female	brain
39	chr12:76225800-76228200	Weak transcription	Fetal Lung	lung
40	chr12:76226000-76228000	Weak transcription	Fetal Heart	heart
41	chr12:76226200-76226400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:76226400-76228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:76226400-76229800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:76226800-76228400	Weak transcription	NHLF	lung
45	chr12:76227400-76232000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:76228000-76230000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:76228200-76228400	Enhancers	Fetal Heart	heart
48	chr12:76228200-76228600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:76228200-76228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:76228200-76228600	Bivalent Enhancer	K562	blood

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