Variant report

Variant	rs12229426
Chromosome Location	chr12:63048202-63048203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr12:63047464-63048296	H1-hESC	embryonic stem cell:	n/a	chr12:63048096-63048108
2	CTBP2	chr12:63047468-63048287	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr12:63047879-63048265	H1-hESC	embryonic stem cell:	n/a	chr12:63048096-63048108

No.	Distal block	Cell Line	Cell type
1	chr12:63038732..63045047-chr12:63045521..63050769,8	MCF-7	breast:
2	chr12:63045607..63047672-chr12:63047992..63050853,2	MCF-7	breast:
3	chr12:63045714..63050618-chr12:63051733..63055030,6	MCF-7	breast:

Variant related genes	Relation type
RPL32P26	TF binding region
ENSG00000238475	Chromatin interaction
ENSG00000241941	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506444	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10735911	0.91[ASN][1000 genomes]
rs10747969	0.89[ASN][1000 genomes]
rs11174585	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11174593	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12812936	0.90[ASN][1000 genomes]
rs1498716	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047480	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4143878	0.89[ASN][1000 genomes]
rs4763186	0.90[ASN][1000 genomes]
rs4763187	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4763188	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4763189	0.93[ASN][1000 genomes]
rs4763190	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135812	0.90[ASN][1000 genomes]
rs964644	0.90[ASN][1000 genomes]
rs9971786	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63026600-63049800	Weak transcription	Right Atrium	heart
2	chr12:63035200-63048400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
4	chr12:63037200-63050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
7	chr12:63041400-63049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:63041600-63049400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:63041600-63049800	Weak transcription	Fetal Stomach	stomach
10	chr12:63041600-63053600	Weak transcription	Osteobl	bone
11	chr12:63041800-63048600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:63042000-63049600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:63042200-63050400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:63042400-63048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:63042400-63049200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:63042400-63049400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:63042400-63049400	Weak transcription	Ovary	ovary
18	chr12:63044800-63050200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr12:63045000-63053400	Weak transcription	Fetal Kidney	kidney
20	chr12:63045600-63051000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr12:63045800-63054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:63046000-63048400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:63046000-63049600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
24	chr12:63046000-63054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:63047000-63051800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:63047200-63048400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:63047200-63048600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:63047200-63054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:63047400-63048800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:63047400-63049200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:63047400-63049400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:63047400-63053800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:63047600-63048400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:63047600-63049200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:63047600-63049200	Enhancers	Fetal Thymus	thymus
36	chr12:63047600-63049400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:63047600-63049600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr12:63047600-63051400	Strong transcription	Fetal Intestine Small	intestine
39	chr12:63047600-63054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:63047600-63058000	Weak transcription	A549	lung
41	chr12:63047800-63048400	Enhancers	Fetal Muscle Trunk	muscle
42	chr12:63047800-63053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:63047800-63057200	Weak transcription	Lung	lung
44	chr12:63047800-63062000	Weak transcription	Stomach Mucosa	stomach
45	chr12:63047800-63069600	Weak transcription	Liver	Liver
46	chr12:63048000-63048400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr12:63048000-63048400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr12:63048000-63048400	Enhancers	Primary T cells from cord blood	blood
49	chr12:63048000-63048600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:63048000-63049000	Enhancers	Primary hematopoietic stem cells	blood

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