Variant report

Variant	rs2436597
Chromosome Location	chr12:106485585-106485586
allele	A/C
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	FOSL2	chr12:106484616-106485685	A549	lung:	n/a	chr12:106485127-106485137 chr12:106485127-106485138 chr12:106485411-106485420 chr12:106485124-106485135 chr12:106485410-106485419 chr12:106485126-106485138
2	FOS	chr12:106484732-106485598	HUVEC	blood vessel:	n/a	chr12:106485127-106485137 chr12:106485127-106485138 chr12:106485411-106485420 chr12:106485124-106485135 chr12:106485410-106485419 chr12:106485126-106485138
3	TCF12	chr12:106484654-106485612	SK-N-SH	brain:	n/a	chr12:106485077-106485085 chr12:106485324-106485331
4	RCOR1	chr12:106483571-106485660	IMR90	lung:	n/a	n/a
5	MAX	chr12:106484752-106485643	A549	lung:	n/a	n/a
6	MAX	chr12:106484652-106485716	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106484447..106487406-chr12:106489050..106490916,2	MCF-7	breast:

Variant related genes	Relation type
NUAK1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861555	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112867	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs11112868	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112869	0.89[ASN][1000 genomes]
rs11112870	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112872	0.85[CHB][hapmap]
rs12371401	0.99[ASN][1000 genomes]
rs1427785	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1427786	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1560000	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs2434082	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436598	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468198	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468199	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2468200	0.84[ASN][1000 genomes]
rs2569973	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2956406	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131912	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7964234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs958422	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967872	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:106469000-106490200	Weak transcription	Gastric	stomach
5	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:106477000-106487200	Weak transcription	HepG2	liver
7	chr12:106477600-106492200	Weak transcription	Fetal Brain Female	brain
8	chr12:106478400-106485800	Enhancers	Brain Hippocampus Middle	brain
9	chr12:106478400-106488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106478400-106491600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:106478600-106492400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:106478800-106487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:106478800-106491000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:106479000-106489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:106479000-106490600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:106479200-106487200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:106479200-106490800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:106479200-106490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:106479200-106491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:106479400-106487200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:106479400-106488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:106479400-106490800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:106479800-106487000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:106480600-106485600	Enhancers	Right Atrium	heart
25	chr12:106480800-106485600	Enhancers	Brain Angular Gyrus	brain
26	chr12:106480800-106485600	Enhancers	Brain Anterior Caudate	brain
27	chr12:106481000-106485800	Enhancers	Brain Substantia Nigra	brain
28	chr12:106481000-106493000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:106481600-106486200	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:106481800-106485800	Enhancers	Ovary	ovary
31	chr12:106482000-106485600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:106482000-106489400	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:106482200-106485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:106482400-106485600	Enhancers	Adipose Nuclei	Adipose
35	chr12:106482400-106485600	Enhancers	Right Ventricle	heart
36	chr12:106482400-106485800	Enhancers	Colon Smooth Muscle	Colon
37	chr12:106482400-106485800	Genic enhancers	HSMMtube	muscle
38	chr12:106482600-106485600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:106482600-106485600	Enhancers	NHDF-Ad	bronchial
40	chr12:106482600-106485600	Enhancers	NHLF	lung
41	chr12:106482800-106485600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:106482800-106486400	Enhancers	Left Ventricle	heart
43	chr12:106483000-106485600	Enhancers	Fetal Muscle Leg	muscle
44	chr12:106483000-106486800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:106483000-106489800	Weak transcription	Liver	Liver
46	chr12:106483200-106488000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:106483200-106490400	Weak transcription	NHEK	skin
48	chr12:106483400-106485800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:106483600-106485600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:106483600-106485600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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