Variant report

Variant	rs17152188
Chromosome Location	chr7:50933120-50933121
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	MAFK	chr7:50933047-50933916	HepG2	liver:	n/a	chr7:50933127-50933137 chr7:50933123-50933143 chr7:50933742-50933758 chr7:50933127-50933136 chr7:50933741-50933755 chr7:50933126-50933140 chr7:50933742-50933753 chr7:50933125-50933141 chr7:50933742-50933753
2	JUND	chr7:50933113-50933174	H1-hESC	embryonic stem cell:	n/a	chr7:50933128-50933138
3	POLR2A	chr7:50932956-50933156	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000228204	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10486745	0.94[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11509225	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718987	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12718991	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13227730	0.82[ASW][hapmap]
rs13233520	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13235836	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13309489	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17134073	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134078	0.91[ASN][1000 genomes]
rs17152184	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17725573	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34469633	0.85[ASN][1000 genomes]
rs34591416	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34709117	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34790261	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35571129	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36020647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36040165	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36100248	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36106319	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4446688	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55694818	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55853103	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58935441	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71540281	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71540282	0.85[ASN][1000 genomes]
rs984450	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50926200-50934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:50926200-50935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:50927000-50935600	Weak transcription	Pancreas	Pancrea
4	chr7:50930400-50934600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:50932200-50934400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:50932400-50933200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:50932400-50933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:50932400-50935000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:50932600-50933200	Enhancers	Left Ventricle	heart
10	chr7:50932600-50934200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:50932800-50934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:50932800-50934200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:50933000-50933200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:50933000-50933200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:50933000-50933200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:50933000-50933400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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