Variant report

Variant	rs7978101
Chromosome Location	chr12:104630510-104630511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10400561	0.81[ASN][1000 genomes]
rs10735392	0.84[AMR][1000 genomes]
rs10735395	0.82[AMR][1000 genomes]
rs10745995	0.81[AMR][1000 genomes]
rs10745996	0.81[AMR][1000 genomes]
rs10861204	0.82[AMR][1000 genomes]
rs11111943	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11111955	0.87[ASN][1000 genomes]
rs17035324	1.00[ASN][1000 genomes]
rs4129598	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246264	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4246269	0.82[AMR][1000 genomes]
rs4246270	0.82[AMR][1000 genomes]
rs4246271	0.82[AMR][1000 genomes]
rs4388968	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4447242	0.81[AMR][1000 genomes]
rs4502051	0.84[AMR][1000 genomes]
rs4545635	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4614534	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964226	0.88[EUR][1000 genomes]
rs4964257	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4964260	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4964270	0.87[ASN][1000 genomes]
rs4964271	0.91[ASN][1000 genomes]
rs4964288	0.82[AMR][1000 genomes]
rs4964627	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4964632	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4964741	0.86[AMR][1000 genomes]
rs4964752	0.84[AMR][1000 genomes]
rs4964761	0.86[AMR][1000 genomes]
rs4964779	0.84[AMR][1000 genomes]
rs4964784	0.82[AMR][1000 genomes]
rs61939222	0.81[ASN][1000 genomes]
rs6419386	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6539128	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132418	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7138035	0.81[AMR][1000 genomes]
rs7138317	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7139336	0.86[AMR][1000 genomes]
rs7294997	0.86[AMR][1000 genomes]
rs7295413	0.84[ASN][1000 genomes]
rs7298613	0.84[AMR][1000 genomes]
rs7299866	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7305872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73177991	1.00[AFR][1000 genomes]
rs7957725	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7958851	0.92[ASN][1000 genomes]
rs7962423	0.81[AMR][1000 genomes]
rs7969351	0.84[AMR][1000 genomes]
rs7975161	0.91[ASN][1000 genomes]
rs9738614	0.82[AMR][1000 genomes]
rs9739826	0.82[AMR][1000 genomes]
rs9739833	0.82[AMR][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	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104629800-104632600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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