Variant report

Variant	rs1251532
Chromosome Location	chr1:76429557-76429558
allele	A/T
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]
rs10127768	1.00[EUR][1000 genomes]
rs1021463	1.00[EUR][1000 genomes]
rs10493581	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146585	1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	1.00[EUR][1000 genomes]
rs1146595	1.00[EUR][1000 genomes]
rs1146596	1.00[EUR][1000 genomes]
rs1146597	1.00[EUR][1000 genomes]
rs1146599	1.00[EUR][1000 genomes]
rs1146600	1.00[EUR][1000 genomes]
rs1146601	1.00[EUR][1000 genomes]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs12401785	1.00[EUR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1251499	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251554	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251559	1.00[EUR][1000 genomes]
rs1251563	1.00[EUR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1616175	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	1.00[EUR][1000 genomes]
rs17098016	1.00[EUR][1000 genomes]
rs17098027	1.00[EUR][1000 genomes]
rs17098034	1.00[EUR][1000 genomes]
rs17098071	1.00[EUR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs1796809	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs28675110	1.00[EUR][1000 genomes]
rs60471485	1.00[EUR][1000 genomes]
rs6691913	1.00[EUR][1000 genomes]
rs6702596	1.00[EUR][1000 genomes]
rs72988548	1.00[EUR][1000 genomes]
rs72988551	1.00[EUR][1000 genomes]
rs72990771	1.00[EUR][1000 genomes]
rs72992611	1.00[EUR][1000 genomes]
rs7515337	1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs946982	0.83[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	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:76421000-76430000	Weak transcription	HMEC	breast
2	chr1:76427800-76429600	Weak transcription	A549	lung
3	chr1:76428200-76429600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:76429000-76429800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76429200-76429800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:76429400-76429600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:76429400-76429800	Enhancers	Osteobl	bone
8	chr1:76429400-76430800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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