Variant report

Variant	esv3374133
Chromosome Location	chr12:63207117-63207640
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62975555..62976174-chr12:63206937..63207657,2	MCF-7	breast:
2	chr12:63206567..63207268-chr12:63462389..63463384,4	MCF-7	breast:
3	chr12:63205779..63208274-chr12:63327328..63329891,3	MCF-7	breast:
4	chr12:63196838..63197455-chr12:63206767..63207402,2	MCF-7	breast:
5	chr12:62831822..62832575-chr12:63207029..63207544,2	MCF-7	breast:
6	chr12:63196043..63196896-chr12:63206741..63207439,2	MCF-7	breast:
7	chr12:63206979..63207548-chr12:63328588..63329252,2	MCF-7	breast:
8	chr12:63206234..63209842-chr12:63325867..63329850,5	MCF-7	breast:
9	chr12:63206702..63209353-chr12:63327262..63329339,2	K562	blood:
10	chr12:63206735..63207639-chr12:63377173..63378137,2	MCF-7	breast:
11	chr12:62995726..62998366-chr12:63204238..63207426,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199179	chromatin interactions
ENSG00000111110	chromatin interactions
ENSG00000257354	chromatin interactions
ENSG00000252660	chromatin interactions
ENSG00000221949	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11174669	chr12:63207121-63207122	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201987833	chr12:63207125-63207126	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs536614891	chr12:63207128-63207129	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs113356338	chr12:63207131-63207132	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs71878925	chr12:63207132-63207133	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs188456818	chr12:63207139-63207140	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs192279321	chr12:63207151-63207152	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs111797910	chr12:63207152-63207153	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs546033307	chr12:63207180-63207181	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs553647467	chr12:63207208-63207209	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs368696819	chr12:63207232-63207233	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs574691252	chr12:63207250-63207251	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs146577187	chr12:63207264-63207265	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs573060433	chr12:63207286-63207287	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs542312331	chr12:63207300-63207301	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs530317823	chr12:63207305-63207306	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs562010209	chr12:63207321-63207322	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs530947373	chr12:63207360-63207361	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs184514767	chr12:63207392-63207393	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs563601613	chr12:63207401-63207402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs79475368	chr12:63207425-63207426	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs190209652	chr12:63207426-63207427	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs550019077	chr12:63207476-63207477	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570016376	chr12:63207482-63207483	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs370873195	chr12:63207501-63207502	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35965214	chr12:63207515-63207516	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528251292	chr12:63207571-63207572	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548288652	chr12:63207599-63207600	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs10877914	chr12:63207615-63207616	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63196000-63225800	Weak transcription	Gastric	stomach
9	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:63201400-63207200	Strong transcription	HepG2	liver
11	chr12:63205800-63207200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:63205800-63211400	Weak transcription	K562	blood
13	chr12:63206200-63207200	Enhancers	NH-A	brain
14	chr12:63206400-63208200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:63206600-63207200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:63206600-63207200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:63206600-63207200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr12:63206600-63207200	Enhancers	Left Ventricle	heart
19	chr12:63206600-63207200	Enhancers	Ovary	ovary
20	chr12:63206600-63207200	Enhancers	Psoas Muscle	Psoas
21	chr12:63206600-63207200	Enhancers	Thymus	Thymus
22	chr12:63206600-63207200	Enhancers	A549	lung
23	chr12:63206600-63207200	Flanking Active TSS	Osteobl	bone
24	chr12:63206600-63207400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:63206600-63207400	Enhancers	Fetal Thymus	thymus
26	chr12:63206600-63207600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:63206600-63207600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:63206800-63207200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:63206800-63207200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:63206800-63207200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:63206800-63207200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:63206800-63207200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:63206800-63207200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:63206800-63207200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:63206800-63207200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:63206800-63207200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:63206800-63207200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:63206800-63207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:63206800-63207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:63206800-63207200	Active TSS	Primary B cells from cord blood	blood
41	chr12:63206800-63207200	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:63206800-63207200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr12:63206800-63207200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:63206800-63207200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:63206800-63207200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:63206800-63207200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:63206800-63207200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:63206800-63207200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:63206800-63207200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:63206800-63207200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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