Variant report

Variant	rs12297125
Chromosome Location	chr12:49590846-49590847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49581166..49587086-chr12:49589804..49595729,8	K562	blood:
2	chr12:49589357..49591267-chr12:49599776..49602072,2	K562	blood:
3	chr12:49522795..49526173-chr12:49587033..49593162,7	K562	blood:

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10219709	0.83[AMR][1000 genomes]
rs11168832	1.00[EUR][1000 genomes]
rs11168898	0.83[AMR][1000 genomes]
rs11168899	0.83[AMR][1000 genomes]
rs11168905	0.83[AMR][1000 genomes]
rs11168913	0.83[AMR][1000 genomes]
rs11168916	0.83[AMR][1000 genomes]
rs11168918	0.83[AMR][1000 genomes]
rs11168923	0.83[AMR][1000 genomes]
rs12296189	0.83[AMR][1000 genomes]
rs12296265	0.83[AMR][1000 genomes]
rs12298869	0.83[AMR][1000 genomes]
rs12302803	1.00[EUR][1000 genomes]
rs12310528	1.00[EUR][1000 genomes]
rs12315823	0.83[AMR][1000 genomes]
rs12318970	0.83[AMR][1000 genomes]
rs12321120	0.83[AMR][1000 genomes]
rs12322965	0.83[AMR][1000 genomes]
rs57728708	1.00[EUR][1000 genomes]
rs61648563	0.83[AMR][1000 genomes]
rs9804862	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49583000-49592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:49583200-49595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:49583400-49591400	Weak transcription	K562	blood
4	chr12:49583400-49595800	Weak transcription	Ovary	ovary
5	chr12:49583600-49592200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49583600-49592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:49583600-49592400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:49583600-49594600	Weak transcription	Fetal Kidney	kidney
9	chr12:49583600-49595800	Weak transcription	Aorta	Aorta
10	chr12:49583600-49595800	Weak transcription	Fetal Thymus	thymus
11	chr12:49583800-49592400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:49583800-49592400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:49584000-49592200	Weak transcription	NHLF	lung
14	chr12:49584200-49591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:49584200-49591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:49584200-49591200	Weak transcription	Brain Anterior Caudate	brain
17	chr12:49584200-49594200	Weak transcription	A549	lung
18	chr12:49584400-49591200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:49584400-49591200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:49584400-49592000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:49584400-49592400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:49584600-49591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:49584600-49592400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:49584600-49592400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:49585000-49591000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:49585200-49591000	Weak transcription	Fetal Brain Female	brain
27	chr12:49585200-49592200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:49585200-49592200	Weak transcription	Fetal Brain Male	brain
29	chr12:49588800-49591600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:49589000-49592000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:49589400-49591600	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:49589800-49591200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:49589800-49591200	Weak transcription	Primary B cells from cord blood	blood
34	chr12:49589800-49591200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:49590000-49591000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:49590000-49591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:49590000-49591000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:49590000-49591200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:49590000-49591400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:49590000-49592200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:49590200-49591200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:49590200-49591600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:49590600-49591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:49590600-49592000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:49590800-49591000	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:49590800-49591400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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