Variant report

Variant	rs7960451
Chromosome Location	chr12:117673242-117673243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11068425	0.90[ASN][1000 genomes]
rs16947370	1.00[EUR][1000 genomes]
rs16947421	1.00[EUR][1000 genomes]
rs2271984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2291909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2293053	0.90[ASN][1000 genomes]
rs3782195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3782198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41432944	0.93[ASN][1000 genomes]
rs57657052	1.00[EUR][1000 genomes]
rs58807700	0.90[ASN][1000 genomes]
rs60695198	1.00[EUR][1000 genomes]
rs73401890	0.90[ASN][1000 genomes]
rs73401892	0.90[ASN][1000 genomes]
rs7961096	1.00[EUR][1000 genomes]
rs9658301	1.00[EUR][1000 genomes]
rs9658422	1.00[EUR][1000 genomes]
rs9658426	1.00[EUR][1000 genomes]
rs9658449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9658450	0.80[ASN][1000 genomes]
rs9658462	0.90[ASN][1000 genomes]
rs9658463	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9658465	1.00[EUR][1000 genomes]
rs9658479	1.00[EUR][1000 genomes]
rs9658481	1.00[EUR][1000 genomes]
rs9658487	1.00[EUR][1000 genomes]
rs9658496	0.93[ASN][1000 genomes]
rs9658501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9658507	1.00[EUR][1000 genomes]
rs9658508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9658512	0.93[ASN][1000 genomes]
rs9658515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117658200-117678200	Weak transcription	Pancreas	Pancrea
3	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
4	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
5	chr12:117670000-117687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:117671200-117674200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:117672400-117674800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:117672400-117674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:117672400-117675200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:117672600-117674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117672600-117680000	Weak transcription	NHEK	skin
12	chr12:117672800-117674200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:117673000-117674200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:117673000-117674200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:117673000-117674600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:117673000-117674800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:117673000-117678400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:117673200-117674200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:117673200-117674400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:117673200-117675000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:117673200-117676800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:117673200-117678000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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