Variant report

Variant	rs12290546
Chromosome Location	chr11:32429099-32429100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32426055..32429120-chr11:32454398..32457565,3	K562	blood:

Variant related genes	Relation type
ENSG00000183242	Chromatin interaction
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10767933	0.94[ASN][1000 genomes]
rs10767935	0.81[ASN][1000 genomes]
rs10835893	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10835901	0.81[ASN][1000 genomes]
rs10835903	0.81[ASN][1000 genomes]
rs10835904	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835905	0.81[ASN][1000 genomes]
rs10835906	0.81[ASN][1000 genomes]
rs11031754	0.81[ASN][1000 genomes]
rs11031767	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11824258	0.87[ASN][1000 genomes]
rs16754	0.92[ASN][1000 genomes]
rs16923242	0.81[ASN][1000 genomes]
rs1799937	0.95[ASN][1000 genomes]
rs2234587	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2295081	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2295082	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3818055	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3858440	0.81[ASN][1000 genomes]
rs3858441	0.81[ASN][1000 genomes]
rs3858442	0.81[ASN][1000 genomes]
rs3858445	0.88[ASN][1000 genomes]
rs3901671	0.81[ASN][1000 genomes]
rs3932463	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5030201	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5030207	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5030218	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5030241	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5030317	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030320	0.95[ASN][1000 genomes]
rs6484573	0.81[ASN][1000 genomes]
rs6484574	0.94[ASN][1000 genomes]
rs6484575	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6484576	0.94[ASN][1000 genomes]
rs6484577	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67011824	0.83[AMR][1000 genomes]
rs7107082	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7115190	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7116462	0.84[ASN][1000 genomes]
rs7125543	0.81[ASN][1000 genomes]
rs7125816	0.80[ASN][1000 genomes]
rs7938016	0.81[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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32420400-32429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:32422200-32433400	Weak transcription	Ovary	ovary
3	chr11:32424200-32433400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:32426400-32434400	Weak transcription	Fetal Kidney	kidney
5	chr11:32427800-32435000	Weak transcription	K562	blood
6	chr11:32428800-32429600	Enhancers	Dnd41	blood
7	chr11:32429000-32429400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:32429000-32429400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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