Variant report

Variant	rs12755330
Chromosome Location	chr1:170492616-170492617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:170491789..170493587-chr1:170499674..170501678,2	MCF-7	breast:
2	chr1:170491631..170497954-chr1:170498410..170503138,12	MCF-7	breast:
3	chr1:170490274..170493135-chr1:170498401..170502278,3	K562	blood:

Variant related genes	Relation type
ENSG00000120370	Chromatin interaction
ENSG00000231407	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10919407	0.83[ASN][1000 genomes]
rs10919422	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11583564	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588124	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11589240	0.81[AMR][1000 genomes]
rs11589376	0.81[AMR][1000 genomes]
rs11590710	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11806866	0.87[ASN][1000 genomes]
rs12729774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12735952	0.81[EUR][1000 genomes]
rs12737862	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747498	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751882	0.83[ASN][1000 genomes]
rs1333141	0.89[JPT][hapmap]
rs1537394	0.89[JPT][hapmap]
rs16863369	0.87[ASN][1000 genomes]
rs1855220	0.87[ASN][1000 genomes]
rs34593046	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34597697	0.83[ASN][1000 genomes]
rs34621734	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35299255	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35329498	0.87[ASN][1000 genomes]
rs35564609	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581791	0.92[ASN][1000 genomes]
rs4488075	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824337	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61824349	0.87[ASN][1000 genomes]
rs61824356	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824357	0.87[ASN][1000 genomes]
rs6427248	0.82[EUR][1000 genomes]
rs6427249	0.82[EUR][1000 genomes]
rs6668898	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6676293	1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap]
rs67243697	0.87[ASN][1000 genomes]
rs7515690	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs7552922	0.82[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][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	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12755330	GORAB	cis	parietal	SCAN
rs12755330	GORAB	cis	Artery Tibial	GTEx
rs12755330	DUSP27	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170487200-170500200	Weak transcription	Right Ventricle	heart
2	chr1:170492000-170500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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