Variant report

Variant	rs12229529
Chromosome Location	chr12:49541408-49541409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49522625..49526881-chr12:49539871..49542275,4	K562	blood:
2	chr12:49540518..49542956-chr12:49545372..49548439,3	K562	blood:
3	chr12:49523953..49526231-chr12:49537682..49541779,5	MCF-7	breast:
4	chr12:49538806..49541687-chr12:49548560..49551215,2	K562	blood:
5	chr12:49540518..49542156-chr12:49545372..49547379,3	K562	blood:
6	chr12:49522965..49525829-chr12:49540329..49542888,2	MCF-7	breast:
7	chr12:49541333..49543637-chr12:49556219..49557962,2	K562	blood:
8	chr12:49540347..49542996-chr12:49573195..49574779,2	K562	blood:
9	chr12:49530579..49532896-chr12:49538813..49542516,4	K562	blood:
10	chr12:49480932..49482845-chr12:49540458..49542191,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1039225	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1057548	0.80[EUR][1000 genomes]
rs10783307	0.87[EUR][1000 genomes]
rs10783308	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10875922	0.87[EUR][1000 genomes]
rs10875924	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10875925	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10875927	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10875928	0.87[EUR][1000 genomes]
rs10875929	0.85[EUR][1000 genomes]
rs10875930	0.86[EUR][1000 genomes]
rs10875931	0.86[EUR][1000 genomes]
rs11168874	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11168882	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11168883	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168884	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168885	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11168888	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11168890	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168894	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168895	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11168901	0.86[EUR][1000 genomes]
rs11168902	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11168903	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11168904	0.86[EUR][1000 genomes]
rs11168909	0.82[EUR][1000 genomes]
rs11168910	0.88[EUR][1000 genomes]
rs11837207	0.85[EUR][1000 genomes]
rs12227296	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12227610	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12227770	0.85[EUR][1000 genomes]
rs12228775	0.83[EUR][1000 genomes]
rs12229524	0.88[EUR][1000 genomes]
rs12306494	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12318740	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12579015	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1476137	0.83[EUR][1000 genomes]
rs1476138	0.82[EUR][1000 genomes]
rs1874908	0.85[EUR][1000 genomes]
rs1991427	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1991428	0.84[EUR][1000 genomes]
rs2016107	0.84[EUR][1000 genomes]
rs2047101	0.81[EUR][1000 genomes]
rs2114845	0.89[EUR][1000 genomes]
rs2114846	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2162643	0.85[EUR][1000 genomes]
rs2162644	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241727	0.86[EUR][1000 genomes]
rs2334930	0.86[EUR][1000 genomes]
rs2334931	0.86[EUR][1000 genomes]
rs2753	0.81[EUR][1000 genomes]
rs2878287	0.86[EUR][1000 genomes]
rs35884657	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57853986	0.81[EUR][1000 genomes]
rs58336603	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58711211	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6580701	0.86[EUR][1000 genomes]
rs6580703	0.83[EUR][1000 genomes]
rs697624	0.81[EUR][1000 genomes]
rs73110168	0.87[EUR][1000 genomes]
rs7311346	0.85[EUR][1000 genomes]
rs731350	0.83[EUR][1000 genomes]
rs7953169	0.85[EUR][1000 genomes]
rs7954521	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7954530	0.86[EUR][1000 genomes]
rs7957998	0.86[EUR][1000 genomes]
rs7969963	0.84[EUR][1000 genomes]
rs7969967	0.84[EUR][1000 genomes]
rs7976890	0.80[EUR][1000 genomes]
rs9325145	0.85[EUR][1000 genomes]
rs9739878	0.84[EUR][1000 genomes]
rs9788139	0.83[EUR][1000 genomes]
rs9788140	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
5	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
2	chr12:49527600-49542400	Weak transcription	A549	lung
3	chr12:49527800-49542400	Weak transcription	Fetal Brain Male	brain
4	chr12:49527800-49542800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:49527800-49543000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:49528000-49544000	Weak transcription	GM12878-XiMat	blood
7	chr12:49538800-49553800	Weak transcription	K562	blood

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