Variant report

Variant	rs56300554
Chromosome Location	chr7:78060635-78060636
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17150722	0.90[EUR][1000 genomes]
rs55755867	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55933247	0.85[EUR][1000 genomes]
rs56309024	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7810607	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78049600-78066200	Weak transcription	Ovary	ovary
2	chr7:78051600-78064200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:78052400-78064200	Weak transcription	Brain Anterior Caudate	brain
4	chr7:78056800-78064600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:78058600-78060800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:78058800-78065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:78060600-78061000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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