Variant report

Variant	rs7530801
Chromosome Location	chr1:84533343-84533344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1016379	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12031206	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12035258	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1811643	0.80[ASN][1000 genomes]
rs2139931	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2642181	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2642182	0.92[ASN][1000 genomes]
rs2642184	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2642185	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2684911	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2684914	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2811999	0.92[ASN][1000 genomes]
rs2812447	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2812451	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2892811	0.80[ASN][1000 genomes]
rs562971	0.80[ASN][1000 genomes]
rs663521	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72710880	0.92[ASN][1000 genomes]
rs72711180	0.83[AMR][1000 genomes];0.92[ASN][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	nsv1732	chr1:84499098-84544635	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv871655	chr1:84517261-84550849	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3379138	chr1:84531980-84545128	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr1:84532600-84533600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:84532800-84533600	Enhancers	Brain Hippocampus Middle	brain
3	chr1:84533000-84533400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:84533200-84533600	Enhancers	Brain Substantia Nigra	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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