Variant report

Variant	rs12222286
Chromosome Location	chr11:66810232-66810233
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66797275..66803171-chr11:66809491..66815160,8	MCF-7	breast:
2	chr11:66787576..66792602-chr11:66807265..66813571,6	MCF-7	breast:
3	chr11:66793035..66795299-chr11:66809261..66812054,2	MCF-7	breast:
4	chr11:66806094..66814931-chr11:66821361..66829117,12	MCF-7	breast:
5	chr11:66805861..66807850-chr11:66808655..66812239,3	K562	blood:
6	chr11:66806075..66807850-chr11:66809472..66811213,2	K562	blood:
7	chr11:66798942..66801519-chr11:66809230..66812239,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173156	Chromatin interaction
ENSG00000173227	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10160663	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896146	1.00[EUR][1000 genomes]
rs10896147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227641	0.80[ASN][1000 genomes]
rs11227645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227651	0.80[ASN][1000 genomes]
rs11227654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227655	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227656	1.00[ASN][1000 genomes]
rs11227658	0.87[ASN][1000 genomes]
rs11227659	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227660	0.93[ASN][1000 genomes]
rs11227662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227664	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227666	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12270068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273240	1.00[EUR][1000 genomes]
rs12274897	1.00[EUR][1000 genomes]
rs12275370	1.00[EUR][1000 genomes]
rs12276046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277065	1.00[EUR][1000 genomes]
rs12277720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281292	1.00[EUR][1000 genomes]
rs12281335	1.00[EUR][1000 genomes]
rs12281512	1.00[EUR][1000 genomes]
rs12282433	1.00[EUR][1000 genomes]
rs12282440	1.00[EUR][1000 genomes]
rs12284422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285661	1.00[EUR][1000 genomes]
rs12287658	1.00[EUR][1000 genomes]
rs12288309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288354	1.00[EUR][1000 genomes]
rs12290308	1.00[EUR][1000 genomes]
rs12290429	1.00[EUR][1000 genomes]
rs12290836	1.00[AMR][1000 genomes]
rs12290886	1.00[AMR][1000 genomes]
rs12290950	1.00[AMR][1000 genomes]
rs12292728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12788732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56173916	1.00[EUR][1000 genomes]
rs56973649	1.00[EUR][1000 genomes]
rs57604888	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57946225	1.00[EUR][1000 genomes]
rs60751057	1.00[EUR][1000 genomes]
rs7109580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73493529	1.00[EUR][1000 genomes]
rs73493531	1.00[EUR][1000 genomes]
rs73501797	1.00[EUR][1000 genomes]
rs73501800	1.00[EUR][1000 genomes]
rs7924894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925264	1.00[EUR][1000 genomes]
rs7941982	1.00[EUR][1000 genomes]
rs7942885	1.00[EUR][1000 genomes]
rs7948985	1.00[AMR][1000 genomes];1.00[EUR][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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv555239	chr11:66796380-66816507	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
6	nsv555240	chr11:66796380-66820728	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66799600-66816000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:66801200-66821600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:66801800-66813800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:66801800-66816800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:66802200-66812600	Weak transcription	A549	lung
6	chr11:66802400-66810600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:66802400-66810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:66802400-66813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:66802400-66821600	Weak transcription	Brain Anterior Caudate	brain
10	chr11:66802400-66821800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:66804200-66812400	Weak transcription	Hela-S3	cervix
12	chr11:66807800-66811200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:66808400-66810400	Enhancers	Liver	Liver
14	chr11:66808600-66813200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:66809000-66810800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:66809200-66810400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:66809400-66810400	Weak transcription	Placenta	Placenta
18	chr11:66809400-66816000	Weak transcription	Gastric	stomach
19	chr11:66809600-66811400	Bivalent Enhancer	HepG2	liver
20	chr11:66809800-66810600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:66810000-66810400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr11:66810000-66813400	Enhancers	Osteobl	bone
23	chr11:66810000-66816600	Weak transcription	Spleen	Spleen
24	chr11:66810200-66811200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:66810200-66813200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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