Variant report

Variant	rs73375640
Chromosome Location	chr7:39596047-39596048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58449224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60952857	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6967238	0.96[AFR][1000 genomes]
rs73372707	1.00[AMR][1000 genomes]
rs73372724	1.00[AMR][1000 genomes]
rs73372737	1.00[AMR][1000 genomes]
rs73373891	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375626	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7778148	1.00[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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39589400-39596200	Enhancers	Fetal Brain Male	brain
2	chr7:39594800-39600000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:39595000-39600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:39595600-39596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39595800-39596800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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