Variant report

Variant	esv3353852
Chromosome Location	chr12:48737418-48737815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48731724..48737573-chr12:48737990..48746470,14	K562	blood:
2	chr12:48737714..48740514-chr12:48742056..48744740,4	K562	blood:
3	chr12:48737402..48739098-chr12:48743829..48745442,2	MCF-7	breast:
4	chr12:48735709..48737484-chr12:48748152..48750019,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167528	chromatin interactions
ENSG00000257735	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150751613	chr12:48737443-48737444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201841660	chr12:48737448-48737449	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372714587	chr12:48737454-48737455	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569016339	chr12:48737459-48737460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370601433	chr12:48737476-48737477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113364736	chr12:48737500-48737501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561565971	chr12:48737513-48737514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574914927	chr12:48737552-48737553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201194739	chr12:48737554-48737555	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11168534	chr12:48737570-48737571	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549163360	chr12:48737579-48737580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567758419	chr12:48737608-48737609	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532617902	chr12:48737644-48737645	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537995472	chr12:48737651-48737652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs117903022	chr12:48737670-48737671	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549565151	chr12:48737675-48737676	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571139126	chr12:48737703-48737704	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531867461	chr12:48737729-48737730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147352413	chr12:48737770-48737771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48729000-48739200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:48729200-48743400	Weak transcription	Stomach Mucosa	stomach
3	chr12:48731200-48738200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:48731200-48743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:48732400-48742600	Strong transcription	Left Ventricle	heart
6	chr12:48732600-48738000	Weak transcription	Small Intestine	intestine
7	chr12:48732600-48742600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:48733200-48742000	Strong transcription	Brain Hippocampus Middle	brain
9	chr12:48733200-48742200	Strong transcription	Fetal Thymus	thymus
10	chr12:48733400-48739600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:48733400-48741000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:48733600-48742000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:48733600-48742200	Strong transcription	Primary B cells from cord blood	blood
14	chr12:48733600-48743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:48733800-48742000	Strong transcription	Liver	Liver
16	chr12:48733800-48742200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:48733800-48742800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:48734000-48741800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:48734000-48741800	Strong transcription	Fetal Brain Female	brain
20	chr12:48734000-48742000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:48734000-48742200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:48734000-48742600	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:48734200-48742000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:48734600-48739000	Weak transcription	A549	lung
25	chr12:48734600-48741800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:48734600-48742000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr12:48734800-48741600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:48735000-48743000	Weak transcription	Fetal Heart	heart
29	chr12:48735200-48737600	Weak transcription	K562	blood
30	chr12:48735200-48738400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:48735200-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:48735400-48737600	Weak transcription	HSMM	muscle
33	chr12:48735400-48742000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:48735400-48742000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr12:48735400-48742200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:48735400-48742600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:48735400-48743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:48735600-48741400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:48735600-48741800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:48735600-48742000	Strong transcription	Brain Germinal Matrix	brain
41	chr12:48735600-48742000	Strong transcription	Fetal Intestine Large	intestine
42	chr12:48735600-48742000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:48735800-48741600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:48735800-48741800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:48735800-48741800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:48735800-48741800	Strong transcription	Adipose Nuclei	Adipose
47	chr12:48735800-48742000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:48735800-48742200	Strong transcription	Brain Anterior Caudate	brain
49	chr12:48735800-48742400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:48736000-48737800	Strong transcription	HSMMtube	muscle

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