Variant report

Variant	esv3511858
Chromosome Location	chr12:63157765-63158076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63154137..63156513-chr12:63157546..63160196,2	MCF-7	breast:
2	chr12:63155609..63159608-chr12:63162125..63165442,4	K562	blood:
3	chr12:62995414..62998835-chr12:63156967..63159768,4	MCF-7	breast:
4	chr12:63153929..63156518-chr12:63158042..63160004,2	K562	blood:

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

Extended variants
information (count: 13 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73130040	chr12:63157790-63157791	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192841207	chr12:63157839-63157840	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368897887	chr12:63157840-63157841	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs73314554	chr12:63157880-63157881	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73130042	chr12:63157915-63157916	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567804270	chr12:63157941-63157942	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs151153605	chr12:63157976-63157977	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs34564973	chr12:63157978-63157979	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs199962262	chr12:63157979-63157980	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530313287	chr12:63157994-63157995	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs342152	chr12:63158025-63158026	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183915954	chr12:63158040-63158041	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539105645	chr12:63158047-63158048	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:63149800-63158400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:63151000-63160600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:63152200-63160600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:63152400-63161200	Weak transcription	HUVEC	blood vessel
13	chr12:63153200-63158200	Enhancers	Fetal Intestine Large	intestine
14	chr12:63153400-63157800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:63153400-63159000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:63153600-63163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:63153600-63164000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:63153800-63163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:63154000-63163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:63154200-63158800	Enhancers	NHDF-Ad	bronchial
22	chr12:63154600-63158800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:63154800-63160600	Weak transcription	HSMMtube	muscle
24	chr12:63155400-63158800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:63155400-63160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:63155400-63161200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:63155600-63157800	Enhancers	Right Atrium	heart
28	chr12:63155600-63157800	Genic enhancers	HepG2	liver
29	chr12:63156000-63160800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:63156000-63161000	Weak transcription	Gastric	stomach
31	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:63156200-63157800	Weak transcription	NHLF	lung
33	chr12:63156200-63158000	Weak transcription	Right Ventricle	heart
34	chr12:63156200-63158400	Weak transcription	Left Ventricle	heart
35	chr12:63156200-63161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:63156400-63160400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:63156400-63163200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:63156600-63157800	Weak transcription	Osteobl	bone
39	chr12:63156600-63158200	Enhancers	Duodenum Mucosa	Duodenum
40	chr12:63156600-63158200	Enhancers	Fetal Intestine Small	intestine
41	chr12:63156800-63158000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr12:63157000-63158000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:63157200-63158000	Enhancers	Ovary	ovary
44	chr12:63157200-63158600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:63157200-63158600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:63157200-63160800	Weak transcription	Aorta	Aorta
47	chr12:63157400-63158600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:63157400-63160600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:63157400-63165400	Weak transcription	Pancreas	Pancrea
50	chr12:63157600-63158000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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