Variant report

Variant	nsv1035772
Chromosome Location	chr12:58708608-58732055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58333957..58336055-chr12:58707548..58710144,2	MCF-7	breast:
2	chr12:58706895..58709674-chr12:58716044..58718187,2	MCF-7	breast:
3	chr12:58706895..58709674-chr12:58716044..58718187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166896	chromatin interactions

Extended variants
information (count: 712 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532844999	chr12:58708619-58708620	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183650606	chr12:58708637-58708638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545731312	chr12:58708641-58708642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559337947	chr12:58708678-58708679	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528452312	chr12:58708697-58708698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568263773	chr12:58708721-58708722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187665888	chr12:58708788-58708789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143378641	chr12:58708790-58708791	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575101377	chr12:58708848-58708849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539444981	chr12:58708854-58708855	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551393886	chr12:58708877-58708878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548305569	chr12:58708898-58708899	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117981394	chr12:58709013-58709014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74096851	chr12:58709061-58709062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190749816	chr12:58709062-58709063	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574703335	chr12:58709088-58709089	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542086039	chr12:58709110-58709111	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182992345	chr12:58709161-58709162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56407862	chr12:58709195-58709196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546214292	chr12:58709270-58709271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564415278	chr12:58709273-58709274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140037805	chr12:58709278-58709279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561844061	chr12:58709394-58709395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564915622	chr12:58709395-58709396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373090757	chr12:58709422-58709423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568225009	chr12:58709527-58709528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529121709	chr12:58709528-58709529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550870124	chr12:58709562-58709563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569165810	chr12:58709581-58709582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187889822	chr12:58709590-58709591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531053393	chr12:58709632-58709633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2047171	chr12:58709649-58709650	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs557778454	chr12:58709682-58709683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369835194	chr12:58709719-58709720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78741402	chr12:58709740-58709741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533604684	chr12:58709761-58709762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149846700	chr12:58709792-58709793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145833094	chr12:58709849-58709850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542047473	chr12:58709859-58709860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139661892	chr12:58709936-58709937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144320656	chr12:58709955-58709956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373085651	chr12:58709991-58709992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114596882	chr12:58710103-58710104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564464745	chr12:58710138-58710139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528510695	chr12:58710166-58710167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540702280	chr12:58710172-58710173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562189495	chr12:58710245-58710246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529083060	chr12:58710282-58710283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550831614	chr12:58710338-58710339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35836082	chr12:58710370-58710371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	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	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58705400-58709000	Enhancers	HUVEC	blood vessel
2	chr12:58705400-58710000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:58706200-58709200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:58706200-58709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:58706400-58709000	Enhancers	Osteobl	bone
6	chr12:58706800-58709000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:58706800-58709000	Enhancers	NHDF-Ad	bronchial
8	chr12:58706800-58709200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:58707000-58708800	Enhancers	HMEC	breast
10	chr12:58707400-58709200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:58707400-58709200	Enhancers	NH-A	brain
12	chr12:58708000-58708800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:58708000-58708800	Enhancers	NHLF	lung
14	chr12:58708200-58709000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:58708200-58709000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:58708200-58709200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:58708400-58709000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:58708800-58709000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:58709200-58710800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:58709200-58721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:58709400-58711000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:58709800-58711000	Enhancers	Fetal Intestine Small	intestine
23	chr12:58710000-58711400	Enhancers	Fetal Intestine Large	intestine
24	chr12:58710200-58710400	Enhancers	A549	lung
25	chr12:58710800-58711200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:58711000-58711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:58717400-58717800	Enhancers	NH-A	brain
28	chr12:58717800-58719200	Weak transcription	NH-A	brain
29	chr12:58718800-58720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:58718800-58720200	Enhancers	Fetal Lung	lung
31	chr12:58719200-58719400	Enhancers	NH-A	brain
32	chr12:58719200-58719600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:58719200-58720000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:58719400-58719800	Enhancers	Fetal Stomach	stomach
35	chr12:58719600-58720200	Enhancers	Adipose Nuclei	Adipose
36	chr12:58719800-58720200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:58720200-58724000	Weak transcription	Adipose Nuclei	Adipose
38	chr12:58720600-58721200	Enhancers	Fetal Intestine Large	intestine
39	chr12:58720600-58721400	Enhancers	Fetal Intestine Small	intestine
40	chr12:58724000-58724400	Active TSS	Adipose Nuclei	Adipose
41	chr12:58730400-58730600	Enhancers	A549	lung
42	chr12:58730600-58731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:58730600-58731200	Enhancers	Fetal Kidney	kidney
44	chr12:58730600-58731200	Enhancers	NHLF	lung
45	chr12:58730600-58731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:58730600-58731400	Flanking Active TSS	A549	lung
47	chr12:58730600-58731400	Enhancers	Hela-S3	cervix
48	chr12:58730600-58731400	Enhancers	HepG2	liver
49	chr12:58730600-58731400	Enhancers	HUVEC	blood vessel
50	chr12:58730600-58731400	Enhancers	NH-A	brain

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