Variant report

Variant	esv3362970
Chromosome Location	chr12:51654060-51654489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51653853..51656568-chr12:51660091..51661870,2	MCF-7	breast:
2	chr12:51639155..51642440-chr12:51654128..51658049,5	MCF-7	breast:
3	chr12:51475957..51477613-chr12:51652991..51655205,2	K562	blood:
4	chr12:51639097..51641707-chr12:51654193..51657011,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531291195	chr12:51654065-51654066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183955719	chr12:51654077-51654078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561143508	chr12:51654137-51654138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200895814	chr12:51654145-51654146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2359449	chr12:51654151-51654152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7968214	chr12:51654154-51654155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188856241	chr12:51654157-51654158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532500363	chr12:51654162-51654163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552269593	chr12:51654211-51654212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2884709	chr12:51654246-51654247	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538336613	chr12:51654261-51654262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546956429	chr12:51654264-51654265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12811320	chr12:51654309-51654310	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568218814	chr12:51654310-51654311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533979581	chr12:51654325-51654326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554004949	chr12:51654364-51654365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140158420	chr12:51654366-51654367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546114129	chr12:51654378-51654379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368882367	chr12:51654397-51654398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555865796	chr12:51654398-51654399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150328598	chr12:51654399-51654400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10876157	chr12:51654408-51654409	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557016025	chr12:51654409-51654410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184376227	chr12:51654410-51654411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186845080	chr12:51654423-51654424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
2	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
4	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
5	chr12:51640000-51656400	Weak transcription	A549	lung
6	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
7	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
9	chr12:51640400-51659000	Weak transcription	HMEC	breast
10	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:51640600-51656600	Weak transcription	NHDF-Ad	bronchial
12	chr12:51640600-51661800	Weak transcription	NH-A	brain
13	chr12:51641000-51656600	Weak transcription	Osteobl	bone
14	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:51641800-51656400	Weak transcription	Stomach Mucosa	stomach
16	chr12:51641800-51656400	Weak transcription	HUVEC	blood vessel
17	chr12:51642000-51662800	Weak transcription	NHLF	lung
18	chr12:51642200-51661000	Weak transcription	Colonic Mucosa	Colon
19	chr12:51642200-51662800	Weak transcription	Gastric	stomach
20	chr12:51642200-51662800	Weak transcription	Right Ventricle	heart
21	chr12:51642200-51663000	Weak transcription	Lung	lung
22	chr12:51642400-51659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:51642400-51662800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:51642600-51658000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51642600-51659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:51642600-51659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:51642600-51662600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:51642800-51658800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51643000-51662600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:51643200-51656600	Weak transcription	Spleen	Spleen
31	chr12:51643200-51662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:51644800-51655200	Weak transcription	K562	blood
33	chr12:51644800-51659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:51645000-51656600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:51645000-51656600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:51645000-51658800	Weak transcription	Dnd41	blood
37	chr12:51645200-51661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:51647600-51656600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:51647600-51657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:51647800-51659200	Weak transcription	Placenta	Placenta
41	chr12:51648000-51656600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:51648800-51662600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:51649000-51656200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:51649400-51661400	Weak transcription	Esophagus	oesophagus
45	chr12:51649400-51662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:51649600-51659400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:51650000-51655200	Weak transcription	NHEK	skin
48	chr12:51651000-51662800	Weak transcription	Liver	Liver
49	chr12:51651200-51659200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:51651200-51660200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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