Variant report

Variant	esv3389327
Chromosome Location	chr12:122949838-122950298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122906584..122908969-chr12:122947316..122950216,3	MCF-7	breast:
2	chr12:122949994..122952533-chr12:123234424..123237485,3	MCF-7	breast:
3	chr12:122904060..122906537-chr12:122948950..122950891,2	MCF-7	breast:
4	chr12:122883342..122886247-chr12:122947542..122950684,3	MCF-7	breast:
5	chr12:122947417..122950530-chr12:122951037..122954189,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139726	chromatin interactions
ENSG00000130779	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112853592	chr12:122949840-122949841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71085804	chr12:122949856-122949857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569753006	chr12:122949871-122949872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534027430	chr12:122949906-122949907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367952605	chr12:122949926-122949927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551766481	chr12:122949939-122949940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573723469	chr12:122949943-122949944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534600099	chr12:122949958-122949959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553308053	chr12:122949971-122949972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566738948	chr12:122949994-122949995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577969507	chr12:122950007-122950008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545205281	chr12:122950016-122950017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563311960	chr12:122950021-122950022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181854466	chr12:122950026-122950027	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7963773	chr12:122950035-122950036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561044065	chr12:122950073-122950074	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539721642	chr12:122950086-122950087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7958257	chr12:122950110-122950111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186115779	chr12:122950153-122950154	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553637183	chr12:122950158-122950159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138555178	chr12:122950191-122950192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532664894	chr12:122950205-122950206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189405391	chr12:122950214-122950215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180679526	chr12:122950218-122950219	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569388143	chr12:122950238-122950239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185113103	chr12:122950247-122950248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549150014	chr12:122950271-122950272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141632404	chr12:122950288-122950289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534612526	chr12:122950289-122950290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552970842	chr12:122950292-122950293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
3	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
4	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:122943600-122951400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:122944400-122957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122945800-122956000	Weak transcription	GM12878-XiMat	blood
8	chr12:122947400-122951600	Enhancers	Placenta	Placenta
9	chr12:122948200-122952000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:122948400-122950000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:122948600-122950000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:122948600-122957000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:122948800-122951200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:122948800-122951400	Weak transcription	Esophagus	oesophagus
15	chr12:122948800-122955600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:122948800-122955800	Weak transcription	Fetal Intestine Small	intestine
17	chr12:122948800-122957000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:122948800-122958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:122948800-122958000	Weak transcription	Psoas Muscle	Psoas
20	chr12:122949000-122955800	Weak transcription	HSMM	muscle
21	chr12:122949200-122951200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:122949200-122955600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:122949200-122955800	Weak transcription	HepG2	liver
24	chr12:122949600-122952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:122949600-122955600	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:122949600-122955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:122949600-122957000	Weak transcription	Lung	lung
28	chr12:122949800-122950000	Enhancers	Hela-S3	cervix
29	chr12:122949800-122951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:122949800-122951200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:122949800-122951200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:122949800-122951200	Weak transcription	NHEK	skin
33	chr12:122949800-122951400	Weak transcription	HMEC	breast
34	chr12:122949800-122955600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:122949800-122955600	Weak transcription	A549	lung
36	chr12:122949800-122955600	Weak transcription	NH-A	brain
37	chr12:122949800-122955600	Weak transcription	NHDF-Ad	bronchial
38	chr12:122949800-122955600	Weak transcription	NHLF	lung
39	chr12:122949800-122955800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:122949800-122955800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:122949800-122955800	Weak transcription	Stomach Mucosa	stomach
42	chr12:122949800-122955800	Weak transcription	Osteobl	bone
43	chr12:122949800-122957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:122949800-122957200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:122949800-122957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:122949800-122958000	Weak transcription	Small Intestine	intestine
47	chr12:122949800-122958200	Weak transcription	Pancreas	Pancrea
48	chr12:122950000-122951200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:122950000-122956000	Weak transcription	Primary monocytes fromperipheralblood	blood

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