Variant report

Variant	rs12134995
Chromosome Location	chr1:170083859-170083860
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	REST	chr1:170083783-170084788	HL-60	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
2	REST	chr1:170083799-170084822	ECC-1	luminal epithelium:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
3	REST	chr1:170083681-170084830	MCF-7	breast:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265

Variant related genes	Relation type
SIGLEC30P	TF binding region

Extended variants
information (count: 27 )
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]
rs12117197	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]
rs12117652	0.87[YRI][hapmap]
rs12117892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126443	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12131296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144057	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12144085	0.87[YRI][hapmap]
rs12145948	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs6703198	1.00[JPT][hapmap]
rs7519877	1.00[ASN][1000 genomes]
rs7528074	1.00[ASN][1000 genomes]
rs7549000	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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