Variant report

Variant	nsv983436
Chromosome Location	chr12:47398417-47411538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46763692..46765813-chr12:47408580..47410799,2	K562	blood:
2	chr12:47409351..47411528-chr12:47417449..47418991,2	K562	blood:
3	chr12:47407713..47409880-chr12:47409894..47412537,2	K562	blood:
4	chr12:47409237..47411552-chr12:47414622..47416468,2	K562	blood:
5	chr12:47407713..47409880-chr12:47409894..47412537,2	K562	blood:
6	chr12:47336941..47339479-chr12:47410671..47412614,2	MCF-7	breast:
7	chr12:47392715..47394809-chr12:47397505..47399987,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	chromatin interactions
ENSG00000258096	chromatin interactions

Extended variants
information (count: 528 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57139061	chr12:47398516-47398517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144101335	chr12:47398535-47398536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530885228	chr12:47398614-47398615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114361055	chr12:47398629-47398630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183274009	chr12:47398632-47398633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116149536	chr12:47398636-47398637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78263043	chr12:47398683-47398684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567042113	chr12:47398716-47398717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59867714	chr12:47398725-47398726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545268678	chr12:47398736-47398737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577712151	chr12:47398750-47398751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543396538	chr12:47398805-47398806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187896296	chr12:47398815-47398816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573579695	chr12:47398847-47398848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75209763	chr12:47398869-47398870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559240909	chr12:47398880-47398881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34711688	chr12:47398898-47398899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528229157	chr12:47398950-47398951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17097455	chr12:47398975-47398976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs565374922	chr12:47398994-47398995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371985480	chr12:47399115-47399116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78273267	chr12:47399129-47399130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61399825	chr12:47399131-47399132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565793848	chr12:47399143-47399144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536447470	chr12:47399154-47399155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117555373	chr12:47399197-47399198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77724573	chr12:47399212-47399213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547279519	chr12:47399228-47399229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11837971	chr12:47399239-47399240	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58822170	chr12:47399281-47399282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558927280	chr12:47399282-47399283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571305278	chr12:47399309-47399310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200181009	chr12:47399313-47399314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386376396	chr12:47399314-47399315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536776451	chr12:47399316-47399317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189822166	chr12:47399400-47399401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573270384	chr12:47399417-47399418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201163265	chr12:47399444-47399445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145233467	chr12:47399488-47399489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563385345	chr12:47399506-47399507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572844924	chr12:47399507-47399508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148748009	chr12:47399605-47399606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564964288	chr12:47399607-47399608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182769172	chr12:47399616-47399617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542506628	chr12:47399662-47399663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544350654	chr12:47399670-47399671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561383082	chr12:47399708-47399709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530074651	chr12:47399773-47399774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116217670	chr12:47399811-47399812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560758077	chr12:47399883-47399884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47394800-47407800	Weak transcription	HSMM	muscle
2	chr12:47397800-47401200	Enhancers	Liver	Liver
3	chr12:47401000-47401600	Enhancers	Psoas Muscle	Psoas
4	chr12:47401200-47401600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:47401200-47401600	Flanking Active TSS	Liver	Liver
6	chr12:47401600-47402000	Enhancers	Liver	Liver
7	chr12:47403000-47403600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:47403600-47408200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:47407600-47408000	Enhancers	NH-A	brain
10	chr12:47407600-47408800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:47407600-47409000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:47407600-47409200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:47407800-47408000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:47407800-47408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:47407800-47408800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:47407800-47409000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:47407800-47409000	Enhancers	Hela-S3	cervix
18	chr12:47407800-47409000	Enhancers	HMEC	breast
19	chr12:47407800-47409000	Enhancers	HSMM	muscle
20	chr12:47407800-47409000	Enhancers	NHEK	skin
21	chr12:47407800-47409000	Enhancers	Osteobl	bone
22	chr12:47408000-47408200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:47408000-47408400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:47408000-47408600	Flanking Active TSS	NH-A	brain
25	chr12:47408000-47409200	Enhancers	HUVEC	blood vessel
26	chr12:47408200-47408400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:47408200-47408400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr12:47408200-47408600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:47408200-47408800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:47408200-47408800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:47408200-47408800	Enhancers	NHLF	lung
32	chr12:47408200-47409000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:47408200-47409000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:47408200-47409000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:47408200-47409000	Enhancers	HSMMtube	muscle
36	chr12:47408200-47409600	Enhancers	A549	lung
37	chr12:47408400-47408600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:47408400-47408800	Enhancers	NHDF-Ad	bronchial
39	chr12:47408400-47409200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:47408600-47409000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:47408600-47409000	Enhancers	NH-A	brain
42	chr12:47408600-47414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:47408800-47409000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:47408800-47411000	Weak transcription	NHLF	lung
45	chr12:47408800-47411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:47408800-47411600	Weak transcription	NHDF-Ad	bronchial
47	chr12:47408800-47414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:47409000-47409400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:47409000-47409400	Weak transcription	HSMMtube	muscle
50	chr12:47409000-47411000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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