Variant report

Variant	rs7300719
Chromosome Location	chr12:41239198-41239199
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10431586	0.83[AFR][1000 genomes]
rs10784898	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784901	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879259	0.80[EUR][1000 genomes]
rs10879294	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10879339	0.84[ASN][1000 genomes]
rs10879340	0.84[ASN][1000 genomes]
rs11178530	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11178829	0.81[ASN][1000 genomes]
rs11178838	0.80[ASN][1000 genomes]
rs11178839	0.80[ASN][1000 genomes]
rs11178848	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11178884	0.80[ASN][1000 genomes]
rs11178887	0.80[ASN][1000 genomes]
rs11178967	0.83[ASN][1000 genomes]
rs1126373	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12317351	0.90[ASN][1000 genomes]
rs12368083	0.81[ASN][1000 genomes]
rs12371725	0.87[ASN][1000 genomes]
rs1579194	0.87[ASN][1000 genomes]
rs1584097	0.82[EUR][1000 genomes]
rs1822598	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1822599	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs184321	0.87[ASN][1000 genomes]
rs1928561	0.87[ASN][1000 genomes]
rs2583991	0.86[ASN][1000 genomes]
rs2583992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2772461	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2772478	0.82[ASN][1000 genomes]
rs312270	0.86[ASN][1000 genomes]
rs312271	0.86[ASN][1000 genomes]
rs312274	0.84[ASN][1000 genomes]
rs312276	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312283	0.86[ASN][1000 genomes]
rs4360771	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768312	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768316	0.80[ASN][1000 genomes]
rs4768317	0.80[ASN][1000 genomes]
rs66578805	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7134512	0.81[AFR][1000 genomes]
rs7300865	0.81[AFR][1000 genomes]
rs73118764	0.87[ASN][1000 genomes]
rs73120761	0.81[ASN][1000 genomes]
rs73124566	0.80[ASN][1000 genomes]
rs7487913	0.88[EUR][1000 genomes]
rs7967262	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs913831	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9325193	0.88[AFR][1000 genomes]
rs984129	0.88[EUR][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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41226800-41266400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41232000-41248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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