Variant report

Variant	rs12543555
Chromosome Location	chr8:69562014-69562015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69553820..69556062-chr8:69561898..69564089,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10087916	1.00[ASN][1000 genomes]
rs10096163	1.00[ASN][1000 genomes]
rs10101154	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10102823	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10103145	1.00[ASN][1000 genomes]
rs10282983	1.00[ASN][1000 genomes]
rs10504430	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504431	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11989456	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11991238	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11991242	1.00[ASN][1000 genomes]
rs11993928	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12541228	1.00[ASN][1000 genomes]
rs12543778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12544468	1.00[CHB][hapmap]
rs12544474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12545316	1.00[CHB][hapmap]
rs12549215	1.00[ASN][1000 genomes]
rs12550386	1.00[ASN][1000 genomes]
rs16919100	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16934882	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16934890	1.00[CHB][hapmap]
rs16934967	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17386888	1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17389337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17478857	1.00[CHB][hapmap]
rs1865442	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2117491	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2164198	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2164199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35013559	1.00[ASN][1000 genomes]
rs4326370	1.00[ASN][1000 genomes]
rs55915240	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064105	1.00[ASN][1000 genomes]
rs56372923	1.00[ASN][1000 genomes]
rs57486369	1.00[ASN][1000 genomes]
rs59328859	1.00[ASN][1000 genomes]
rs59959493	1.00[ASN][1000 genomes]
rs60851352	1.00[ASN][1000 genomes]
rs6982162	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7000878	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7009165	1.00[ASN][1000 genomes]
rs7011624	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7012824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72666766	1.00[ASN][1000 genomes]
rs72666772	1.00[ASN][1000 genomes]
rs72666774	1.00[ASN][1000 genomes]
rs72666780	1.00[ASN][1000 genomes]
rs72666790	1.00[ASN][1000 genomes]
rs72666796	1.00[ASN][1000 genomes]
rs72666799	1.00[ASN][1000 genomes]
rs72668503	1.00[ASN][1000 genomes]
rs72668504	1.00[ASN][1000 genomes]
rs73283854	1.00[ASN][1000 genomes]
rs7812576	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7845052	1.00[ASN][1000 genomes]
rs7846438	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7846688	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9298135	1.00[CHB][hapmap]
rs974335	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv972529	chr8:69561897-69568157	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69545200-69572800	Weak transcription	Aorta	Aorta
2	chr8:69559800-69562200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:69560400-69562200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:69560400-69562200	Enhancers	NHLF	lung
5	chr8:69560800-69562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:69560800-69562200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:69561000-69562200	Enhancers	Fetal Lung	lung
8	chr8:69561200-69562400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:69561400-69562600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:69561600-69562200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:69561600-69562200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:69561600-69562200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:69561800-69562200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:69562000-69563000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:69562000-69563000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:69562000-69563200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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