Variant report

Variant	rs7312428
Chromosome Location	chr12:41247263-41247264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1014167	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1028949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178978	0.84[ASN][1000 genomes]
rs12578583	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12578762	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12579682	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580909	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581257	0.88[ASN][1000 genomes]
rs12581462	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582450	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12582480	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582790	0.88[ASN][1000 genomes]
rs12582806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810195	0.88[ASN][1000 genomes]
rs12814216	0.82[ASN][1000 genomes]
rs12824161	0.88[ASN][1000 genomes]
rs34409157	0.88[ASN][1000 genomes]
rs34435345	0.88[ASN][1000 genomes]
rs34480545	0.97[ASN][1000 genomes]
rs34588792	0.88[ASN][1000 genomes]
rs35067046	0.88[ASN][1000 genomes]
rs35640051	0.88[ASN][1000 genomes]
rs35840550	0.88[ASN][1000 genomes]
rs56928815	0.88[ASN][1000 genomes]
rs59969287	0.88[ASN][1000 genomes]
rs7303594	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307211	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7310770	0.88[ASN][1000 genomes]
rs7311456	0.88[ASN][1000 genomes]
rs73118754	0.88[ASN][1000 genomes]
rs73118756	0.88[ASN][1000 genomes]
rs7314477	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960431	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969238	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][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:11 , 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
3	chr12:41245200-41247400	Weak transcription	Fetal Brain Male	brain
4	chr12:41245800-41248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:41245800-41248400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:41246000-41248400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:41246400-41248600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:41246400-41248600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:41247000-41247600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:41247000-41247600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:41247000-41247600	Enhancers	Pancreatic Islets	Pancreatic Islet

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