Variant report

Variant	rs12117197
Chromosome Location	chr1:170064975-170064976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:170064234..170066011-chr1:170067576..170069501,2	K562	blood:
2	chr1:170063764..170066011-chr1:170067064..170069501,2	K562	blood:
3	chr1:170053683..170055688-chr1:170064676..170066604,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075945	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11799803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11800956	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11805430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11806707	1.00[JPT][hapmap]
rs11807053	1.00[ASN][1000 genomes]
rs12117652	0.85[YRI][hapmap]
rs12117892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126443	0.89[CEU][hapmap];0.85[YRI][hapmap]
rs12131296	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132888	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133861	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12134995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141461	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144057	0.89[CEU][hapmap];0.85[YRI][hapmap]
rs12144085	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12145948	0.89[CEU][hapmap];0.85[YRI][hapmap]
rs6703198	1.00[JPT][hapmap]
rs7519877	1.00[ASN][1000 genomes]
rs7528074	1.00[ASN][1000 genomes]
rs7549000	0.85[YRI][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170064200-170067200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:170064400-170065200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:170064400-170065200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:170064400-170067000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:170064400-170068000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:170064600-170067200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:170064800-170065000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:170064800-170067200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links