Variant report

Variant	rs72875219
Chromosome Location	chr11:16556907-16556908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1393928	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4132853	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4256940	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4365016	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4375406	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4456227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4573649	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4756853	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4756859	0.90[EUR][1000 genomes]
rs4757400	0.82[AMR][1000 genomes]
rs4757409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4757412	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4757418	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs55684437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55928688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56153248	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56225716	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56255909	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59872066	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66506578	1.00[EUR][1000 genomes]
rs66650309	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67055609	0.98[EUR][1000 genomes]
rs67244957	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68176835	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7115472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7116277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122236	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7131206	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72859412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859435	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859451	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859457	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859461	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72859475	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72859478	0.98[EUR][1000 genomes]
rs72859480	1.00[EUR][1000 genomes]
rs72859488	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72859492	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72861207	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72861211	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72862543	0.82[EUR][1000 genomes]
rs72871402	0.85[AMR][1000 genomes]
rs72873303	0.85[AMR][1000 genomes]
rs72873307	0.82[AMR][1000 genomes]
rs72873319	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72873332	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72873340	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72873349	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72873376	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72873390	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72873400	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72875203	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72875216	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72875220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940952	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944054	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9667265	0.93[AMR][1000 genomes];1.00[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16544600-16558200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16551400-16558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:16556200-16557200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:16556400-16557000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:16556400-16558200	Weak transcription	Left Ventricle	heart
6	chr11:16556800-16557200	Enhancers	Psoas Muscle	Psoas
7	chr11:16556800-16557400	Weak transcription	Fetal Heart	heart

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