Variant report

Variant	rs923561
Chromosome Location	chr1:210302595-210302596
allele	A/G
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:28)

rs_ID	r²[population]
rs1016479	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1099864	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17188183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17188190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2142857	0.81[AMR][1000 genomes]
rs2205986	0.82[ASN][1000 genomes]
rs2205990	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs227185	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs227192	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227208	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs227214	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs227215	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2357211	0.82[ASW][hapmap];0.92[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs2451693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2484029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2494187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2494188	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2743892	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820393	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61827913	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61827915	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61827917	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61827918	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61827920	0.82[AMR][1000 genomes]
rs61827921	0.82[AMR][1000 genomes]
rs6540571	0.82[ASW][hapmap];0.88[GIH][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs719034	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs846547	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv818800	chr1:210258653-210304319	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210299600-210305800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:210302000-210303400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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