Variant report

Variant	rs10748047
Chromosome Location	chr12:66886368-66886369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10784538	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784539	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784540	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10784541	0.81[AMR][1000 genomes]
rs10784545	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10784546	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11176225	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11609808	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12321126	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1845296	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3891951	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3970925	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4913307	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4913310	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4913496	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4913517	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913518	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6581698	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7134378	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7135061	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7306349	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7487758	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7952846	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7960332	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7962122	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9989032	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66876400-66893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66880600-66887400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:66885400-66886400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:66885400-66886400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:66886000-66887000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:66886000-66887200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:66886000-66889400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:66886000-66889400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:66886000-66889400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:66886200-66886400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:66886200-66887200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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