Variant report

Variant	rs12750941
Chromosome Location	chr1:159463179-159463180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10797040	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10797041	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10797042	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11265208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124964	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132709	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12133727	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12135090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12143746	0.84[ASN][1000 genomes]
rs12409528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409540	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12410757	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12756262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17422585	1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28420559	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000798	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845625	1.00[YRI][hapmap]
rs4133289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4325129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4548435	1.00[YRI][hapmap]
rs4656827	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821494	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61821495	1.00[ASN][1000 genomes]
rs61821510	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61821536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61828219	0.86[AFR][1000 genomes]
rs6677055	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683536	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6696020	0.84[ASN][1000 genomes]
rs6698250	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72715662	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7511872	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7519020	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522607	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7540007	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549785	1.00[YRI][hapmap]
rs7551346	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553515	1.00[YRI][hapmap]
rs7555008	0.99[EUR][1000 genomes]
rs7556355	1.00[ASN][1000 genomes]
rs9628657	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs981677	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 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	chr1:159461800-159463400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:159461800-159463400	Enhancers	Hela-S3	cervix
3	chr1:159461800-159463400	Enhancers	HUVEC	blood vessel
4	chr1:159461800-159463400	Enhancers	Osteobl	bone
5	chr1:159462600-159463200	Enhancers	NH-A	brain
6	chr1:159462800-159463200	Flanking Active TSS	A549	lung
7	chr1:159463000-159463200	Enhancers	HMEC	breast
8	chr1:159463000-159463400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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