Variant report

Variant	rs12292589
Chromosome Location	chr11:9342913-9342914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9342230..9344286-chr11:9481577..9483674,2	K562	blood:
2	chr11:9342054..9343800-chr11:9362686..9364403,2	MCF-7	breast:
3	chr11:9337780..9339407-chr11:9342681..9345618,2	MCF-7	breast:
4	chr11:9340099..9343454-chr11:9406076..9407743,3	K562	blood:

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10840202	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042273	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11042290	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11042291	0.88[EUR][1000 genomes]
rs11828205	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12273748	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12278189	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12287120	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12290310	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35327707	0.93[ASN][1000 genomes]
rs4537761	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4627080	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59246353	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61875675	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61875692	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61875696	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61875698	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61875699	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7103596	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7112281	0.93[ASN][1000 genomes]
rs7925801	0.85[AMR][1000 genomes]
rs7941600	0.82[AMR][1000 genomes]
rs7948659	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
7	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9337000-9350600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:9337200-9350400	Weak transcription	HSMMtube	muscle
3	chr11:9342000-9344000	Weak transcription	A549	lung
4	chr11:9342000-9345400	Weak transcription	HepG2	liver

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