Variant report

Variant	esv1829827
Chromosome Location	chr12:59944284-59969435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59952670..59955367-chr12:59988706..59991381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 467 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569229337	chr12:59947418-59947419	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs117031910	chr12:59947422-59947423	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140975754	chr12:59947428-59947429	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112606215	chr12:59947433-59947434	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529795126	chr12:59947436-59947437	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34729101	chr12:59947483-59947484	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs35831221	chr12:59947489-59947490	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35285993	chr12:59947496-59947497	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115882062	chr12:59947511-59947512	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144699100	chr12:59947581-59947582	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184335641	chr12:59952752-59952753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4760284	chr12:59952753-59952754	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535743282	chr12:59952875-59952876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556928949	chr12:59952879-59952880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78265448	chr12:59952887-59952888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528289415	chr12:59952984-59952985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539224380	chr12:59953022-59953023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541462818	chr12:59953023-59953024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561646282	chr12:59953035-59953036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557853824	chr12:59953082-59953083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188689107	chr12:59953101-59953102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140194893	chr12:59953137-59953138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149885480	chr12:59953140-59953141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370952800	chr12:59953228-59953229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376337677	chr12:59953229-59953230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377570448	chr12:59953231-59953232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs274461	chr12:59953253-59953254	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372642078	chr12:59953261-59953262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531157645	chr12:59953268-59953269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552476398	chr12:59953294-59953295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564607700	chr12:59953324-59953325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528589917	chr12:59953335-59953336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181469963	chr12:59953368-59953369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550345922	chr12:59953379-59953380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61933351	chr12:59953389-59953390	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550864680	chr12:59953403-59953404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569026039	chr12:59953406-59953407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539646359	chr12:59953447-59953448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7137268	chr12:59953462-59953463	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547037973	chr12:59953464-59953465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371781118	chr12:59953469-59953470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572640607	chr12:59953566-59953567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533636453	chr12:59953666-59953667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74822548	chr12:59953671-59953672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573317629	chr12:59953712-59953713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139295201	chr12:59953791-59953792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535837379	chr12:59953799-59953800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185234606	chr12:59953813-59953814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369681091	chr12:59953942-59953943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs67810279	chr12:59953983-59953984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59947400-59947600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:59961600-59961800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:59961800-59970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:59962600-59964600	Enhancers	Hela-S3	cervix
5	chr12:59964200-59964600	Enhancers	HMEC	breast
6	chr12:59964200-59964600	Enhancers	NHEK	skin
7	chr12:59964600-59968200	Weak transcription	Hela-S3	cervix
8	chr12:59967600-59968800	Enhancers	Primary T cells from cord blood	blood
9	chr12:59967600-59969000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:59968200-59968400	Enhancers	Dnd41	blood
11	chr12:59968200-59969200	Enhancers	Hela-S3	cervix
12	chr12:59968400-59968600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:59968400-59969000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:59968600-59970600	Weak transcription	Dnd41	blood
15	chr12:59968800-59969200	Weak transcription	Primary T cells from cord blood	blood
16	chr12:59969000-59970600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:59969000-59970800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:59969200-59971800	Enhancers	Primary T cells from cord blood	blood
19	chr12:59969400-59969600	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links