Variant report

Variant	rs4511252
Chromosome Location	chr11:16576013-16576014
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	chr11:16573525..16577119-chr11:16577691..16582391,5	K562	blood:
2	chr11:16569309..16571470-chr11:16575430..16577842,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10766326	0.82[EUR][1000 genomes]
rs10766329	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10766331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766337	0.92[EUR][1000 genomes]
rs10766343	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs10832613	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs10832614	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs10832615	0.82[EUR][1000 genomes]
rs10832622	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832627	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832628	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832629	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832635	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832637	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832639	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832640	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832642	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832643	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832646	0.88[ASN][1000 genomes]
rs10832647	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10832648	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10832668	0.86[EUR][1000 genomes]
rs10832671	0.81[EUR][1000 genomes]
rs10832672	0.81[EUR][1000 genomes]
rs11023948	0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11023959	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11023960	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11023962	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11023981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11023987	1.00[ASN][1000 genomes]
rs11023988	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024012	0.86[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs11529132	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11529582	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12270317	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12271656	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12276256	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12283896	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12289091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12289093	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12293115	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12295506	0.88[EUR][1000 genomes]
rs12574185	0.93[EUR][1000 genomes]
rs12575840	0.89[EUR][1000 genomes]
rs12576360	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12786848	0.87[ASN][1000 genomes]
rs12794400	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12806064	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1847314	0.84[CEU][hapmap]
rs34138863	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34840028	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223308	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4359170	0.88[ASN][1000 genomes]
rs4492775	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4525190	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4536174	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4578351	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4603269	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56965201	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57248274	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60439454	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6486296	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6486298	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6486300	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7103094	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7111016	0.83[EUR][1000 genomes]
rs7115099	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7116121	0.81[EUR][1000 genomes]
rs7117636	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7118181	0.83[EUR][1000 genomes]
rs7118874	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs7126577	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7127280	0.92[EUR][1000 genomes]
rs7129286	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7924787	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927904	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7928675	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7928885	0.92[EUR][1000 genomes]
rs7935041	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7937139	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942856	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7943712	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7945295	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945898	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7948110	0.82[EUR][1000 genomes]
rs7951676	0.91[JPT][hapmap]
rs9988855	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1035768	chr11:16530440-16578566	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16573000-16594600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:16573600-16580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:16575000-16576200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:16575200-16579800	Weak transcription	Psoas Muscle	Psoas
5	chr11:16575600-16576200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:16575800-16576200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:16575800-16576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:16576000-16576600	Enhancers	Fetal Lung	lung

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