Variant report

Variant	esv3432551
Chromosome Location	chr12:51745783-51746103
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	chr12:51663386..51664046-chr12:51745481..51746352,2	K562	blood:
2	chr12:51662264..51665283-chr12:51745297..51747465,3	K562	blood:
3	chr12:51441280..51444117-chr12:51744506..51748458,5	MCF-7	breast:
4	chr12:51745453..51745976-chr5:73263142..73263663,3	MCF-7	breast:
5	chr12:51745450..51746290-chr12:51814696..51815264,2	MCF-7	breast:
6	chr12:51631532..51634032-chr12:51744589..51747276,3	MCF-7	breast:
7	chr12:51441102..51443608-chr12:51745304..51746823,2	K562	blood:
8	chr12:51744372..51748268-chr12:51756905..51759729,4	K562	blood:
9	chr12:50468698..50469628-chr12:51745397..51745900,2	K562	blood:
10	chr12:51737875..51739498-chr12:51745613..51748065,2	K562	blood:
11	chr12:51714696..51717509-chr12:51745471..51747033,2	MCF-7	breast:
12	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
13	chr12:51159003..51159746-chr12:51745461..51746336,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170545	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000183283	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570223868	chr12:51745788-51745789	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs3889974	chr12:51745795-51745796	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11341	chr12:51745822-51745823	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10516	chr12:51745834-51745835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369738309	chr12:51745836-51745837	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541762207	chr12:51745845-51745846	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs187288344	chr12:51745848-51745849	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs578104756	chr12:51745878-51745879	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs552286792	chr12:51745881-51745882	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs543887621	chr12:51745884-51745885	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563665488	chr12:51745885-51745886	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs577239405	chr12:51745938-51745939	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139525914	chr12:51746054-51746055	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192177366	chr12:51746087-51746088	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
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
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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
2	chr12:51735400-51745800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:51735400-51746800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:51735400-51747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:51735400-51747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51735400-51747400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:51735400-51747600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:51735400-51747800	Weak transcription	NHLF	lung
9	chr12:51735400-51750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:51735400-51750600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:51735400-51750600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:51735600-51746800	Weak transcription	Primary T cells from cord blood	blood
14	chr12:51735600-51750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:51735800-51747400	Weak transcription	Dnd41	blood
17	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:51739400-51748400	Weak transcription	Gastric	stomach
19	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:51739600-51750600	Weak transcription	GM12878-XiMat	blood
21	chr12:51740000-51747400	Weak transcription	NHEK	skin
22	chr12:51740200-51745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:51740200-51746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:51740400-51747400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:51740400-51747400	Weak transcription	Thymus	Thymus
26	chr12:51740400-51747800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:51740600-51747600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:51740600-51751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:51740800-51753200	Weak transcription	NHDF-Ad	bronchial
30	chr12:51741000-51747800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:51742200-51745800	Weak transcription	K562	blood
32	chr12:51742400-51746000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:51742400-51749600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:51743200-51750600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:51743400-51746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:51743400-51746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:51743400-51751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:51744000-51746400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:51744000-51748000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:51744800-51746400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:51745200-51745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:51745200-51746200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:51745200-51746200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:51745400-51745800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:51745400-51746200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr12:51745400-51746200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:51745400-51746200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:51745400-51746200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:51745400-51746200	Enhancers	Brain Angular Gyrus	brain

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