Variant report

Variant	esv3496719
Chromosome Location	chr12:51463134-51463557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51455894..51458688-chr12:51461376..51464242,3	K562	blood:
2	chr12:51460740..51468069-chr12:51474538..51479190,12	MCF-7	breast:
3	chr12:51419403..51422014-chr12:51461322..51463972,2	K562	blood:
4	chr12:51319857..51321933-chr12:51462346..51464109,2	K562	blood:
5	chr12:51455333..51457534-chr12:51459088..51463413,4	MCF-7	breast:
6	chr12:51461592..51467381-chr12:51474203..51479524,7	K562	blood:
7	chr12:51439357..51442258-chr12:51462438..51464086,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110911	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000110925	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539069477	chr12:51463139-51463140	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs111780246	chr12:51463151-51463152	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112934790	chr12:51463155-51463156	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs61934804	chr12:51463186-51463187	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs140066046	chr12:51463201-51463202	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371271681	chr12:51463262-51463263	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs12830918	chr12:51463287-51463288	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs7966091	chr12:51463298-51463299	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs61934805	chr12:51463300-51463301	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs184708342	chr12:51463332-51463333	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533849889	chr12:51463403-51463404	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs368638512	chr12:51463426-51463427	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570218905	chr12:51463438-51463439	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556466810	chr12:51463464-51463465	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553635814	chr12:51463467-51463468	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555906682	chr12:51463493-51463494	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549644254	chr12:51463508-51463509	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188939344	chr12:51463522-51463523	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs569610555	chr12:51463527-51463528	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs548785302	chr12:51463544-51463545	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535417930	chr12:51463551-51463552	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	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
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51444200-51463200	Strong transcription	Placenta	Placenta
4	chr12:51444200-51465000	Strong transcription	Fetal Muscle Leg	muscle
5	chr12:51444200-51465400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:51444200-51465600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:51444200-51470400	Strong transcription	Fetal Stomach	stomach
8	chr12:51444400-51464800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:51445000-51467800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:51445400-51464000	Strong transcription	Fetal Intestine Large	intestine
11	chr12:51445400-51467800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:51445400-51467800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:51445400-51469200	Strong transcription	Fetal Thymus	thymus
14	chr12:51445400-51470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:51445600-51463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:51445600-51465200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:51445600-51467400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr12:51445600-51467800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:51445600-51467800	Strong transcription	Adipose Nuclei	Adipose
20	chr12:51445600-51468000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:51445600-51468400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:51445600-51469200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:51445600-51469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:51445600-51470400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:51445600-51470600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:51445800-51468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:51445800-51468400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:51446000-51468400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:51446600-51463800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:51446800-51468600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:51447000-51466800	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:51447400-51468400	Strong transcription	Fetal Lung	lung
33	chr12:51449200-51467800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:51449800-51470000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:51450200-51468600	Strong transcription	Osteobl	bone
36	chr12:51450400-51463200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:51451800-51464600	Strong transcription	HSMM	muscle
38	chr12:51452800-51468000	Strong transcription	Fetal Brain Female	brain
39	chr12:51453400-51463200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:51453400-51470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:51454000-51475400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:51454200-51470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:51454200-51475600	Weak transcription	Stomach Mucosa	stomach
44	chr12:51454600-51467800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:51455000-51467800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr12:51455000-51467800	Strong transcription	NH-A	brain
47	chr12:51455000-51468600	Strong transcription	Thymus	Thymus
48	chr12:51455200-51465200	Strong transcription	HSMMtube	muscle
49	chr12:51455200-51467800	Strong transcription	Brain Angular Gyrus	brain
50	chr12:51455200-51467800	Strong transcription	Ovary	ovary

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