Variant report

Variant	rs1251538
Chromosome Location	chr1:76436211-76436212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76434414..76437432-chr1:76439336..76442369,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10127768	1.00[EUR][1000 genomes]
rs1021463	1.00[EUR][1000 genomes]
rs10493581	1.00[EUR][1000 genomes]
rs10747330	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs11161785	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	0.81[YRI][hapmap];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	0.81[YRI][hapmap];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]
rs1251532	1.00[EUR][1000 genomes]
rs1251554	1.00[EUR][1000 genomes]
rs1251559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251589	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251592	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251593	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	0.89[ASW][hapmap];0.81[MKK][hapmap];0.81[YRI][hapmap];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]
rs1770884	0.89[ASW][hapmap];1.00[EUR][1000 genomes]
rs1770886	0.89[ASW][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.81[YRI][hapmap]
rs1770888	0.89[ASW][hapmap]
rs1796809	1.00[EUR][1000 genomes]
rs1796811	0.89[ASW][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.81[YRI][hapmap]
rs2347963	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs28675110	1.00[EUR][1000 genomes]
rs60471485	1.00[EUR][1000 genomes]
rs60815815	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	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs995972	0.81[YRI][hapmap]

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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76434200-76437000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:76435000-76436400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:76435000-76436400	Enhancers	HMEC	breast
4	chr1:76436000-76437200	Enhancers	NHLF	lung

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