Variant report

Variant	rs12420985
Chromosome Location	chr11:120004008-120004009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:120003059-120004046	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119998412..120001579-chr11:120003638..120006871,3	K562	blood:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10790369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10892544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10892545	0.94[AMR][1000 genomes]
rs11217699	0.80[ASN][1000 genomes]
rs11217701	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11217702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11217705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11217706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217707	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11217708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217712	0.84[ASN][1000 genomes]
rs11217713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11217723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217725	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217741	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217745	0.94[AMR][1000 genomes]
rs11217746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217748	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11535714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12049837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12224472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12225418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274981	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291620	0.94[AMR][1000 genomes]
rs12417084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12417094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12417234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12418352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12419511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12419830	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12419976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12419985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12421218	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12422179	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981150	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3740728	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740729	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740731	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3781667	0.80[ASN][1000 genomes]
rs3781668	0.80[ASN][1000 genomes]
rs3781669	0.80[ASN][1000 genomes]
rs679074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7118957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575945	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119999000-120006400	Enhancers	Placenta	Placenta
2	chr11:120000400-120008400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:120000600-120006400	Weak transcription	Fetal Thymus	thymus
4	chr11:120001400-120005200	Weak transcription	Hela-S3	cervix
5	chr11:120001400-120007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:120002000-120006000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:120002800-120006200	Transcr. at gene 5' and 3'	NHEK	skin
8	chr11:120003200-120005200	Transcr. at gene 5' and 3'	HMEC	breast
9	chr11:120003200-120008200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:120003400-120004400	Active TSS	Esophagus	oesophagus
11	chr11:120003600-120004400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:120003800-120005600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:120004000-120005800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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