Variant report

Variant	rs73514293
Chromosome Location	chr6:118597818-118597819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17079889	0.85[AFR][1000 genomes]
rs17079933	0.87[AFR][1000 genomes]
rs17079939	0.87[AFR][1000 genomes]
rs17079943	0.87[AFR][1000 genomes]
rs17079950	0.87[AFR][1000 genomes]
rs17079954	0.87[AFR][1000 genomes]
rs4079827	0.87[AFR][1000 genomes]
rs57454465	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58133112	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73512514	0.88[AFR][1000 genomes]
rs73512521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73512524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73512525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73512527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73514256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73514283	0.96[AFR][1000 genomes];1.00[AMR][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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118586200-118601400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:118588800-118598000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:118594800-118598400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:118597000-118599800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:118597200-118599200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:118597400-118599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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