Variant report

Variant	rs12530497
Chromosome Location	chr7:50867455-50867456
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes]
rs17450294	1.00[AFR][1000 genomes]
rs17547506	1.00[AFR][1000 genomes]
rs17547664	1.00[AFR][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4947462	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947464	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947816	0.91[AMR][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947902	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57219566	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58092690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes]
rs73116829	1.00[AFR][1000 genomes]
rs73116888	1.00[AFR][1000 genomes]
rs73116890	1.00[AFR][1000 genomes]
rs73118808	1.00[AFR][1000 genomes]
rs73118814	1.00[AFR][1000 genomes]
rs73118816	1.00[AFR][1000 genomes]
rs73118830	1.00[AFR][1000 genomes]
rs73118836	1.00[AFR][1000 genomes]
rs73122773	1.00[AFR][1000 genomes]
rs73122790	1.00[AFR][1000 genomes]
rs73122793	1.00[AFR][1000 genomes]
rs73122798	1.00[AFR][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs757771	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs757998	0.91[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50861800-50867600	Weak transcription	Psoas Muscle	Psoas
2	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
3	chr7:50865000-50867600	Weak transcription	Pancreas	Pancrea
4	chr7:50867200-50870200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:50867400-50867600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:50867400-50867800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50867400-50868000	Enhancers	Left Ventricle	heart
8	chr7:50867400-50868000	Enhancers	Spleen	Spleen

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