Variant report

Variant	esv3443760
Chromosome Location	chr12:45913734-45935783
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45929506..45931290-chr12:46120162..46122586,2	MCF-7	breast:
2	chr12:45932625..45935363-chr12:45935475..45937376,2	K562	blood:
3	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:
4	chr12:45926815..45928655-chr12:46130897..46132547,2	MCF-7	breast:
5	chr12:45925922..45928759-chr12:45930090..45931726,2	MCF-7	breast:
6	chr12:45911413..45913925-chr12:46121246..46124442,3	MCF-7	breast:
7	chr12:45932625..45935363-chr12:45935475..45937376,2	K562	blood:
8	chr12:45932018..45945296-chr12:46116937..46125620,30	MCF-7	breast:
9	chr12:45923564..45926208-chr12:46122696..46124400,2	MCF-7	breast:
10	chr12:45894701..45896615-chr12:45915195..45917105,2	MCF-7	breast:
11	chr12:45934191..45936111-chr12:45937786..45940550,2	MCF-7	breast:
12	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:
13	chr12:45925922..45928759-chr12:45930090..45931726,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189079	chromatin interactions
ENSG00000273015	chromatin interactions

Extended variants
information (count: 842 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:842 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565269524	chr12:45913755-45913756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138296435	chr12:45913785-45913786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540179859	chr12:45913844-45913845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367896223	chr12:45913893-45913894	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564825578	chr12:45913945-45913946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113278933	chr12:45914143-45914144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543976887	chr12:45914271-45914272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180998419	chr12:45914301-45914302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142889021	chr12:45914306-45914307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565990567	chr12:45914309-45914310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536041789	chr12:45914313-45914314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12314131	chr12:45914314-45914315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374779817	chr12:45914427-45914428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61167803	chr12:45914460-45914461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10785579	chr12:45914468-45914469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75938109	chr12:45914470-45914471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560132432	chr12:45914474-45914475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74081900	chr12:45914476-45914477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527276376	chr12:45914478-45914479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567654493	chr12:45914527-45914528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368168917	chr12:45914537-45914538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571940910	chr12:45914555-45914556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140026421	chr12:45914563-45914564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114435679	chr12:45914652-45914653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112387053	chr12:45914670-45914671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532668399	chr12:45914688-45914689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111738947	chr12:45914694-45914695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536801637	chr12:45914730-45914731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117630406	chr12:45914752-45914753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566894854	chr12:45914812-45914813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186222334	chr12:45914815-45914816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558449094	chr12:45914838-45914839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59710523	chr12:45914841-45914842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544004251	chr12:45914851-45914852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142436294	chr12:45914879-45914880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574535095	chr12:45914904-45914905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150902593	chr12:45914917-45914918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559970488	chr12:45914939-45914940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188723165	chr12:45914953-45914954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6582556	chr12:45914989-45914990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576470130	chr12:45915016-45915017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544689731	chr12:45915099-45915100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565587197	chr12:45915110-45915111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77563759	chr12:45915111-45915112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577632614	chr12:45915117-45915118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569475803	chr12:45915181-45915182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4598720	chr12:45915210-45915211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548694290	chr12:45915211-45915212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181449883	chr12:45915247-45915248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139436032	chr12:45915248-45915249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Gastric cancer	18160780	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45910600-45913800	Enhancers	Fetal Thymus	thymus
2	chr12:45912800-45914000	Enhancers	Thymus	Thymus
3	chr12:45912800-45916000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:45913000-45915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:45913200-45913800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45913200-45927000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45913800-45914000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45915800-45916400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:45916000-45916400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:45924600-45927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:45925200-45925800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:45925400-45926000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:45925800-45926000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:45925800-45926200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:45925800-45926200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:45925800-45926200	Enhancers	Thymus	Thymus
17	chr12:45925800-45926400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:45925800-45926400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:45925800-45926800	Enhancers	Fetal Thymus	thymus
20	chr12:45926000-45926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:45926200-45934400	Weak transcription	Thymus	Thymus
22	chr12:45926800-45933800	Weak transcription	Fetal Thymus	thymus
23	chr12:45927800-45928200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:45933600-45934200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:45933600-45934200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:45933600-45934200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:45933800-45935200	Enhancers	Fetal Thymus	thymus
28	chr12:45934200-45935200	Enhancers	Dnd41	blood
29	chr12:45934400-45935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:45934400-45935200	Enhancers	Thymus	Thymus
31	chr12:45934800-45935200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:45934800-45935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:45935200-45937000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:45935200-45937200	Weak transcription	Fetal Thymus	thymus
35	chr12:45935200-45937200	Weak transcription	Dnd41	blood
36	chr12:45935200-45940400	Weak transcription	Thymus	Thymus
37	chr12:45935400-45937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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