Variant report

Variant	rs969025
Chromosome Location	chr1:224766955-224766956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224766554..224768358-chr1:224768729..224770642,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10916642	1.00[YRI][hapmap]
rs1106233	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12077707	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12079156	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12089565	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12091093	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12096245	0.88[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565092	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1499289	0.88[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1499291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1499293	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1499294	1.00[YRI][hapmap]
rs1532557	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs16850786	0.80[YRI][hapmap]
rs1985338	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58725094	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60500269	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61827075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827076	0.91[EUR][1000 genomes]
rs6695864	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73115953	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73115958	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7415393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883116	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.91[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:224753600-224780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224754000-224767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224754000-224767200	Weak transcription	NHDF-Ad	bronchial
4	chr1:224759800-224767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224766200-224768800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:224766400-224767800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224766800-224767600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:224766800-224768000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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