Variant report

Variant	rs72666112
Chromosome Location	chr1:58312486-58312487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12079421	0.83[ASN][1000 genomes]
rs1408137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519798	0.91[AMR][1000 genomes]
rs1886137	0.84[AMR][1000 genomes]
rs1886138	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4912174	0.82[AMR][1000 genomes]
rs4912284	0.87[AMR][1000 genomes]
rs4997596	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55733745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55757801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56016455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56171994	0.90[AMR][1000 genomes]
rs68051884	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664689	0.83[AMR][1000 genomes]
rs72666110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666115	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666122	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666124	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72666127	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666129	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666132	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666134	0.91[AMR][1000 genomes]
rs72666135	0.87[AMR][1000 genomes]
rs72666137	0.87[AMR][1000 genomes]
rs72666141	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv829937	chr1:58258288-58406506	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58307200-58314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:58308800-58313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:58309000-58316200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:58309400-58313000	Enhancers	HMEC	breast
5	chr1:58310800-58314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:58311200-58314400	Weak transcription	NH-A	brain
7	chr1:58311600-58313800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:58311800-58313600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:58311800-58313600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:58311800-58313600	Weak transcription	NHEK	skin
11	chr1:58312200-58312600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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