Variant report

Variant	rs12814216
Chromosome Location	chr12:41219614-41219615
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1028949	0.82[ASN][1000 genomes]
rs12578583	0.87[ASN][1000 genomes]
rs12579682	0.85[ASN][1000 genomes]
rs12580909	0.87[ASN][1000 genomes]
rs12581257	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12581462	0.82[ASN][1000 genomes]
rs12582480	0.82[ASN][1000 genomes]
rs12582790	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12582806	0.82[ASN][1000 genomes]
rs12810195	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824161	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34409157	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34435345	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34588792	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35067046	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35640051	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35840550	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56928815	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59969287	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7307211	0.85[ASN][1000 genomes]
rs7310770	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311456	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118754	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118756	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7312428	0.82[ASN][1000 genomes]
rs7960431	0.90[ASN][1000 genomes]
rs7969238	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	esv3435443	chr12:41206734-41222972	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41214000-41223200	Weak transcription	NHEK	skin
2	chr12:41214200-41220200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:41214200-41221400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:41214200-41221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:41214400-41220600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:41214400-41221600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:41217400-41221400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:41218600-41221400	Weak transcription	Fetal Brain Male	brain
9	chr12:41218800-41219800	Enhancers	A549	lung
10	chr12:41219200-41221800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:41219400-41223400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:41219600-41221600	Weak transcription	HMEC	breast

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