Variant report

Variant	rs541885927
Chromosome Location	chr12:56500553-56500554
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
ENSG00000139579	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000181852	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	chr12:56499400-56500600	Transcr. at gene 5' and 3'	Hela-S3	cervix
6	chr12:56499400-56500800	Transcr. at gene 5' and 3'	NHEK	skin
7	chr12:56499400-56501000	Weak transcription	Aorta	Aorta
8	chr12:56499400-56501000	Weak transcription	Gastric	stomach
9	chr12:56499400-56501000	Weak transcription	Pancreas	Pancrea
10	chr12:56499600-56500600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr12:56499600-56500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:56499600-56500600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:56499600-56500600	Weak transcription	Left Ventricle	heart
14	chr12:56499600-56500800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:56499600-56501200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:56499600-56505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:56499800-56500600	Genic enhancers	Primary hematopoietic stem cells	blood
18	chr12:56499800-56500600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:56499800-56500800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:56499800-56501000	Weak transcription	Fetal Brain Male	brain
21	chr12:56499800-56501200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:56499800-56501200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:56500000-56500600	Weak transcription	Brain Anterior Caudate	brain
24	chr12:56500000-56500600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:56500000-56500600	Enhancers	Fetal Intestine Large	intestine
26	chr12:56500000-56500800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:56500000-56500800	Genic enhancers	Fetal Stomach	stomach
28	chr12:56500000-56500800	Genic enhancers	Fetal Thymus	thymus
29	chr12:56500000-56500800	Weak transcription	HSMMtube	muscle
30	chr12:56500000-56501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:56500000-56501000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:56500000-56501200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:56500000-56501400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr12:56500000-56508200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:56500200-56500600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:56500200-56500600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:56500200-56500600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:56500200-56500600	Weak transcription	Brain Angular Gyrus	brain
39	chr12:56500200-56500600	Weak transcription	Colonic Mucosa	Colon
40	chr12:56500200-56500600	Weak transcription	Esophagus	oesophagus
41	chr12:56500200-56500600	Weak transcription	Ovary	ovary
42	chr12:56500200-56500600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:56500200-56500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:56500200-56500800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:56500200-56500800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:56500200-56500800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:56500200-56500800	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr12:56500200-56500800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:56500200-56500800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:56500200-56500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links