Variant report

Variant	rs11217619
Chromosome Location	chr11:119867399-119867400
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	GATA3	chr11:119866651-119867471	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119867354..119869206-chr11:119872754..119874804,2	K562	blood:
2	chr11:119853779..119856334-chr11:119866020..119869388,3	K562	blood:

Variant related genes	Relation type
ENSG00000254863	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1108315	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11217596	1.00[EUR][1000 genomes]
rs11217597	1.00[EUR][1000 genomes]
rs11217604	1.00[EUR][1000 genomes]
rs11217606	1.00[EUR][1000 genomes]
rs11217607	1.00[EUR][1000 genomes]
rs11217611	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217614	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11217615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217624	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217626	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217627	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217628	1.00[EUR][1000 genomes]
rs11822515	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11825934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825954	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12224282	1.00[EUR][1000 genomes]
rs12277627	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12573850	1.00[EUR][1000 genomes]
rs12574341	1.00[EUR][1000 genomes]
rs12574743	1.00[EUR][1000 genomes]
rs12575504	1.00[EUR][1000 genomes]
rs12576429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576741	1.00[EUR][1000 genomes]
rs13377460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123510	1.00[EUR][1000 genomes]
rs36015387	1.00[EUR][1000 genomes]
rs56683142	1.00[EUR][1000 genomes]
rs58030968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58861512	1.00[EUR][1000 genomes]
rs60280067	1.00[EUR][1000 genomes]
rs7106560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110709	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7119315	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119397	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119762	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125377	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7125556	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72645471	1.00[EUR][1000 genomes]
rs72645472	1.00[EUR][1000 genomes]
rs72645473	1.00[EUR][1000 genomes]
rs72645474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645476	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72645477	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73586071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7924586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945097	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945376	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7950202	0.94[AFR][1000 genomes];1.00[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	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	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035918	chr11:119853069-119879255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	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	chr11:119859000-119867600	Enhancers	Brain Hippocampus Middle	brain
2	chr11:119859000-119867600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:119860800-119869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:119862000-119871400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:119864200-119867600	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:119864800-119871600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:119866400-119880200	Weak transcription	Esophagus	oesophagus
8	chr11:119866600-119868400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:119866600-119871600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:119867000-119867400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:119867000-119871200	Weak transcription	Brain Substantia Nigra	brain

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