Variant report

Variant	rs12278189
Chromosome Location	chr11:9359844-9359845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9359007..9361004-chr11:9364116..9366769,2	K562	blood:
2	chr11:9358815..9361399-chr11:9364116..9367086,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10770019	0.83[ASN][1000 genomes]
rs10770020	0.87[ASN][1000 genomes]
rs10840202	0.83[EUR][1000 genomes]
rs10840210	0.93[ASN][1000 genomes]
rs11042273	0.80[EUR][1000 genomes]
rs11042283	0.93[ASN][1000 genomes]
rs11042290	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042291	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042292	0.99[ASN][1000 genomes]
rs11042293	0.86[ASN][1000 genomes]
rs11042295	0.85[ASN][1000 genomes]
rs11601719	0.91[ASN][1000 genomes]
rs11601720	0.97[ASN][1000 genomes]
rs11828205	0.90[EUR][1000 genomes]
rs12273748	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275054	0.96[ASN][1000 genomes]
rs12290310	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12292589	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12293224	0.97[ASN][1000 genomes]
rs12293284	1.00[ASN][1000 genomes]
rs4320953	1.00[ASN][1000 genomes]
rs4396290	0.96[ASN][1000 genomes]
rs4537761	0.81[EUR][1000 genomes]
rs4627080	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910452	0.90[ASN][1000 genomes]
rs59246353	0.83[EUR][1000 genomes]
rs61875692	0.80[EUR][1000 genomes]
rs61875696	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61875698	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61875699	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486275	0.96[ASN][1000 genomes]
rs7103596	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7119300	0.93[ASN][1000 genomes]
rs7937938	0.93[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9351200-9368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9353200-9361000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:9353200-9368800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:9358800-9360800	Weak transcription	Right Atrium	heart
5	chr11:9359200-9365400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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