Variant report

Variant	rs10774249
Chromosome Location	chr12:4731500-4731501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10444479	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10444480	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10774246	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10774248	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849101	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10849105	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10849106	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849107	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10849113	0.89[ASN][1000 genomes]
rs11063251	0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs11063257	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs11063259	1.00[CHB][hapmap];0.81[JPT][hapmap];0.97[ASN][1000 genomes]
rs11063261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063262	1.00[YRI][hapmap]
rs11063268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11063271	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11063277	0.92[ASN][1000 genomes]
rs12184474	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12184480	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12310365	1.00[YRI][hapmap]
rs12311760	1.00[YRI][hapmap]
rs12366671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990316	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1990317	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072355	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2072356	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2267547	0.84[CEU][hapmap]
rs6416316	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7312062	0.85[CEU][hapmap]
rs758532	0.82[CEU][hapmap]
rs917566	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv468986	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv557124	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4723600-4735600	Weak transcription	HMEC	breast
2	chr12:4723800-4732000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:4724200-4735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:4725400-4736800	Weak transcription	Pancreas	Pancrea
6	chr12:4725400-4737000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:4725400-4737000	Weak transcription	Left Ventricle	heart
8	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:4725600-4735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:4725600-4738400	Weak transcription	Brain Inferior Temporal Lobe	brain

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