Variant report

Variant	rs10889057
Chromosome Location	chr1:58058084-58058085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10493229	1.00[EUR][1000 genomes]
rs11207053	1.00[EUR][1000 genomes]
rs11803909	1.00[EUR][1000 genomes]
rs11805586	1.00[EUR][1000 genomes]
rs11810273	1.00[EUR][1000 genomes]
rs12067444	1.00[EUR][1000 genomes]
rs12067490	1.00[EUR][1000 genomes]
rs1341311	1.00[EUR][1000 genomes]
rs1404389	1.00[AMR][1000 genomes]
rs1417761	1.00[AMR][1000 genomes]
rs1524706	1.00[EUR][1000 genomes]
rs1524710	1.00[AMR][1000 genomes]
rs1524712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1524731	1.00[EUR][1000 genomes]
rs1534048	1.00[EUR][1000 genomes]
rs1815685	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880442	1.00[EUR][1000 genomes]
rs1935045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2204376	1.00[EUR][1000 genomes]
rs2265623	1.00[EUR][1000 genomes]
rs2691443	1.00[EUR][1000 genomes]
rs2691444	1.00[EUR][1000 genomes]
rs2691445	1.00[EUR][1000 genomes]
rs2691447	1.00[EUR][1000 genomes]
rs2691448	1.00[EUR][1000 genomes]
rs2691455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793641	1.00[EUR][1000 genomes]
rs2805850	1.00[EUR][1000 genomes]
rs2805851	1.00[EUR][1000 genomes]
rs28391765	1.00[EUR][1000 genomes]
rs28621926	1.00[EUR][1000 genomes]
rs4310463	1.00[EUR][1000 genomes]
rs4348747	1.00[EUR][1000 genomes]
rs4526638	1.00[EUR][1000 genomes]
rs4529731	1.00[EUR][1000 genomes]
rs4553222	1.00[EUR][1000 genomes]
rs4554738	1.00[EUR][1000 genomes]
rs56873272	1.00[EUR][1000 genomes]
rs58873103	1.00[EUR][1000 genomes]
rs60116819	1.00[EUR][1000 genomes]
rs60867983	1.00[EUR][1000 genomes]
rs72908597	1.00[EUR][1000 genomes]
rs7551052	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947238	1.00[EUR][1000 genomes]
rs947241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv523574	chr1:58018103-58087789	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv871684	chr1:58021206-58096379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58052000-58061200	Weak transcription	Stomach Mucosa	stomach
2	chr1:58053600-58062200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:58056400-58058200	Enhancers	NHEK	skin
4	chr1:58056400-58058400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:58056400-58062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:58056600-58058600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:58056800-58058200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:58056800-58058200	Enhancers	HMEC	breast
9	chr1:58057000-58058200	Enhancers	Hela-S3	cervix
10	chr1:58057600-58061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:58058000-58058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:58058000-58061400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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