Variant report

Variant	rs12552970
Chromosome Location	chr9:118707467-118707468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12553182	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13293796	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1817026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34028600	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34227378	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34431147	1.00[AMR][1000 genomes]
rs35052145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36058736	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66971325	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72750247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv831700	chr9:118683827-118834499	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118700800-118709000	Enhancers	HMEC	breast
2	chr9:118703800-118707600	Enhancers	Aorta	Aorta
3	chr9:118703800-118707800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:118703800-118707800	Enhancers	NHLF	lung
5	chr9:118703800-118708000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:118703800-118708200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:118704000-118707600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:118704000-118707800	Enhancers	HSMM	muscle
9	chr9:118704200-118708000	Enhancers	HSMMtube	muscle
10	chr9:118705200-118708200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:118705400-118707800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:118705600-118707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:118705600-118707800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:118705600-118707800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:118705600-118707800	Enhancers	NH-A	brain
16	chr9:118705600-118708000	Enhancers	Placenta	Placenta
17	chr9:118705800-118707600	Enhancers	Fetal Stomach	stomach
18	chr9:118706000-118707600	Enhancers	Brain Hippocampus Middle	brain
19	chr9:118706000-118707800	Enhancers	Brain Substantia Nigra	brain
20	chr9:118706000-118707800	Flanking Active TSS	HepG2	liver
21	chr9:118706400-118707600	Enhancers	Fetal Muscle Leg	muscle
22	chr9:118706400-118709000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:118706600-118707600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:118706600-118707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:118706600-118707600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:118706600-118707800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:118707000-118707600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr9:118707000-118707600	Enhancers	Stomach Mucosa	stomach
29	chr9:118707000-118707800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr9:118707000-118708000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr9:118707000-118708800	Weak transcription	Left Ventricle	heart
32	chr9:118707200-118707600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:118707200-118707600	Flanking Active TSS	NHDF-Ad	bronchial
34	chr9:118707200-118707600	Flanking Active TSS	Osteobl	bone
35	chr9:118707200-118707800	Enhancers	Adipose Nuclei	Adipose
36	chr9:118707200-118707800	Enhancers	Fetal Lung	lung
37	chr9:118707200-118707800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:118707200-118707800	Flanking Active TSS	A549	lung
39	chr9:118707400-118707800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:118707400-118707800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:118707400-118708000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:118707400-118708000	Enhancers	Fetal Heart	heart
43	chr9:118707400-118709200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:118707400-118709200	Enhancers	Hela-S3	cervix

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