Variant report

Variant	esv2598737
Chromosome Location	chr12:105773010-105774445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105672864..105673858-chr12:105772686..105773396,2	MCF-7	breast:
2	chr12:105765326..105767170-chr12:105773876..105775781,2	MCF-7	breast:
3	chr12:105724394..105725093-chr12:105772133..105773100,3	MCF-7	breast:
4	chr12:105673064..105673821-chr12:105772193..105773537,4	MCF-7	breast:
5	chr12:105714730..105715298-chr12:105772516..105773065,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12829142	chr12:105773033-105773034	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553104693	chr12:105773037-105773038	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376442520	chr12:105773058-105773059	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140986346	chr12:105773088-105773089	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150248241	chr12:105773114-105773115	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558393560	chr12:105773135-105773136	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146833926	chr12:105773180-105773181	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575157053	chr12:105773192-105773193	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544262068	chr12:105773210-105773211	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567310138	chr12:105773225-105773226	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12829741	chr12:105773227-105773228	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs181615756	chr12:105773241-105773242	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540533751	chr12:105773245-105773246	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560251336	chr12:105773256-105773257	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115892970	chr12:105773282-105773283	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12301860	chr12:105773284-105773285	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565261715	chr12:105773289-105773290	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530918360	chr12:105773354-105773355	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573146633	chr12:105773387-105773388	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372732178	chr12:105773391-105773392	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140730678	chr12:105773436-105773437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566795497	chr12:105773470-105773471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141305765	chr12:105773525-105773526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4445738	chr12:105773679-105773680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558359362	chr12:105773825-105773826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201715898	chr12:105773838-105773839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71468250	chr12:105773937-105773938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71468251	chr12:105773941-105773942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11112500	chr12:105773943-105773944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs71072609	chr12:105773946-105773947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190149012	chr12:105773957-105773958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567027645	chr12:105773958-105773959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376282610	chr12:105773970-105773971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538892954	chr12:105773984-105773985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558606981	chr12:105774033-105774034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182684462	chr12:105774040-105774041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372930276	chr12:105774048-105774049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7968892	chr12:105774061-105774062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs75576828	chr12:105774094-105774095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371076474	chr12:105774096-105774097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574493085	chr12:105774111-105774112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372944283	chr12:105774139-105774140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376203226	chr12:105774152-105774153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545688284	chr12:105774247-105774248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199729720	chr12:105774249-105774250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145864981	chr12:105774260-105774261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576945686	chr12:105774265-105774266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10861416	chr12:105774275-105774276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112376370	chr12:105774308-105774309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565370677	chr12:105774358-105774359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
2	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:105746000-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:105747000-105773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:105748000-105776600	Weak transcription	Gastric	stomach
7	chr12:105748800-105776800	Weak transcription	Pancreas	Pancrea
8	chr12:105751200-105776800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:105751400-105775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:105752400-105776400	Weak transcription	Aorta	Aorta
11	chr12:105760000-105776600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:105762800-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:105763000-105776200	Weak transcription	HSMMtube	muscle
14	chr12:105763000-105776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:105763000-105776600	Weak transcription	Fetal Kidney	kidney
16	chr12:105763000-105776800	Weak transcription	Fetal Intestine Large	intestine
17	chr12:105764800-105803600	Weak transcription	Thymus	Thymus
18	chr12:105765000-105776800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:105766400-105775200	Weak transcription	HUVEC	blood vessel
20	chr12:105766400-105777000	Weak transcription	GM12878-XiMat	blood
21	chr12:105766600-105776600	Weak transcription	HMEC	breast
22	chr12:105766800-105776400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:105767200-105776600	Weak transcription	Fetal Stomach	stomach
24	chr12:105767400-105776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:105767400-105776800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:105767600-105774800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:105767800-105776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:105768200-105775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:105768200-105776400	Weak transcription	NH-A	brain
30	chr12:105768400-105776400	Weak transcription	HSMM	muscle
31	chr12:105768400-105776600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:105768800-105776600	Weak transcription	NHEK	skin
33	chr12:105768800-105776800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:105769000-105776400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:105769000-105776800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:105769000-105778400	Weak transcription	Dnd41	blood
37	chr12:105769200-105776200	Weak transcription	Osteobl	bone
38	chr12:105769400-105776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:105769400-105776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:105769800-105774200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:105771600-105776400	Weak transcription	A549	lung
42	chr12:105772200-105773400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr12:105772400-105776200	Weak transcription	NHDF-Ad	bronchial
44	chr12:105772800-105773200	Enhancers	Hela-S3	cervix
45	chr12:105772800-105773400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:105772800-105773400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:105772800-105773400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:105772800-105773400	Strong transcription	NHLF	lung
49	chr12:105772800-105773600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:105772800-105773600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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