Variant report

Variant	rs11063257
Chromosome Location	chr12:4714709-4714710
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	MXI1	chr12:4713666-4715111	SK-N-SH	brain:	n/a	n/a
2	MYC	chr12:4714612-4714897	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr12:4713654-4714793	IMR90	lung:	n/a	n/a
4	CTCF	chr12:4713545-4714711	A549	lung:	n/a	chr12:4713977-4713990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4712076..4715630-chr12:4717272..4720188,3	K562	blood:

Variant related genes	Relation type
ENSG00000256748	TF binding region
DYRK4	TF binding region
ENSG00000010219	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10444479	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444480	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774248	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774249	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs10849101	0.90[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849107	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849113	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11063251	0.90[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11063259	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063261	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs11063268	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11063271	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11063277	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12184474	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12184480	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366671	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1990316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1990317	1.00[CHB][hapmap];0.84[JPT][hapmap];0.97[ASN][1000 genomes]
rs997373	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4713600-4714800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:4713600-4714800	Active TSS	Fetal Kidney	kidney
3	chr12:4713600-4715000	Active TSS	HSMM	muscle
4	chr12:4713800-4714800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:4713800-4714800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:4713800-4714800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:4713800-4714800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:4713800-4714800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:4713800-4714800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:4713800-4714800	Active TSS	Brain Substantia Nigra	brain
11	chr12:4713800-4714800	Active TSS	Fetal Lung	lung
12	chr12:4713800-4714800	Active TSS	Fetal Thymus	thymus
13	chr12:4713800-4714800	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:4713800-4714800	Active TSS	HSMMtube	muscle
15	chr12:4713800-4715000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:4713800-4715000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:4713800-4715000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:4713800-4715000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:4713800-4715000	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:4713800-4715000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:4713800-4715000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:4713800-4715000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:4713800-4715000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:4713800-4715000	Active TSS	Brain Angular Gyrus	brain
25	chr12:4713800-4715000	Active TSS	Brain Hippocampus Middle	brain
26	chr12:4713800-4715000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:4713800-4715000	Active TSS	Colon Smooth Muscle	Colon
28	chr12:4713800-4715000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:4713800-4715000	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:4713800-4715000	Active TSS	A549	lung
31	chr12:4713800-4715000	Active TSS	Hela-S3	cervix
32	chr12:4713800-4715000	Active TSS	NH-A	brain
33	chr12:4713800-4715000	Active TSS	NHDF-Ad	bronchial
34	chr12:4713800-4715000	Active TSS	NHEK	skin
35	chr12:4713800-4715000	Active TSS	Osteobl	bone
36	chr12:4713800-4715200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:4713800-4715200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:4713800-4715200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:4713800-4715200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:4713800-4715200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:4713800-4715200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:4713800-4715200	Active TSS	K562	blood
43	chr12:4713800-4715400	Active TSS	HMEC	breast
44	chr12:4713800-4715400	Active TSS	NHLF	lung
45	chr12:4714000-4714800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:4714000-4714800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:4714000-4714800	Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:4714000-4714800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:4714000-4714800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr12:4714000-4714800	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links