Variant report

Variant	rs78341715
Chromosome Location	chr12:56500630-56500631
allele	A/G
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	chr12:56435618..56442072-chr12:56498381..56502676,10	K562	blood:
2	chr12:56471261..56483436-chr12:56494778..56506435,58	MCF-7	breast:
3	chr12:56497759..56500713-chr12:56568434..56571351,2	MCF-7	breast:
4	chr12:56471291..56475668-chr12:56497220..56500908,8	K562	blood:
5	chr12:56500254..56503028-chr12:56550656..56552219,2	MCF-7	breast:
6	chr12:56135568..56140230-chr12:56496911..56501047,5	K562	blood:
7	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
8	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
9	chr12:56497691..56500664-chr12:56545558..56547668,3	MCF-7	breast:
10	chr12:56499013..56501029-chr12:56614482..56616399,2	K562	blood:
11	chr12:56497940..56500843-chr12:56693833..56696028,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139613	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000197728	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv1801567	chr12:56496840-56504549	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv973075	chr12:56500110-56507731	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56498400-56501400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:56498600-56501000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56499200-56501400	Transcr. at gene 5' and 3'	K562	blood
4	chr12:56499200-56509600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:56499400-56500800	Transcr. at gene 5' and 3'	NHEK	skin
6	chr12:56499400-56501000	Weak transcription	Aorta	Aorta
7	chr12:56499400-56501000	Weak transcription	Gastric	stomach
8	chr12:56499400-56501000	Weak transcription	Pancreas	Pancrea
9	chr12:56499600-56500800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:56499600-56501200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:56499600-56505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:56499800-56500800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:56499800-56501000	Weak transcription	Fetal Brain Male	brain
14	chr12:56499800-56501200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:56499800-56501200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:56500000-56500800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:56500000-56500800	Genic enhancers	Fetal Stomach	stomach
18	chr12:56500000-56500800	Genic enhancers	Fetal Thymus	thymus
19	chr12:56500000-56500800	Weak transcription	HSMMtube	muscle
20	chr12:56500000-56501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:56500000-56501000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:56500000-56501200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:56500000-56501400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr12:56500000-56508200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:56500200-56500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:56500200-56500800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:56500200-56500800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:56500200-56500800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:56500200-56500800	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr12:56500200-56500800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:56500200-56500800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr12:56500200-56500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:56500200-56500800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:56500200-56500800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:56500200-56500800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:56500200-56500800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:56500200-56500800	Weak transcription	Fetal Brain Female	brain
38	chr12:56500200-56500800	Weak transcription	Lung	lung
39	chr12:56500200-56501000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:56500200-56501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:56500200-56501000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:56500200-56501000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:56500200-56501000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:56500200-56501000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:56500200-56501000	Weak transcription	Right Ventricle	heart
46	chr12:56500200-56501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:56500200-56501200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:56500200-56501400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:56500200-56502400	Strong transcription	Primary B cells from cord blood	blood
50	chr12:56500200-56503000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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