Variant report

Variant	rs428360
Chromosome Location	chr7:52015414-52015415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs364752	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs392252	0.93[AMR][1000 genomes]
rs410473	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs426522	0.88[AMR][1000 genomes]
rs454526	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs616199	0.98[AFR][1000 genomes];1.00[AMR][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	esv3487105	chr7:51737945-52166865	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3487106	chr7:51737945-52166865	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1021159	chr7:51991383-52596649	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52013600-52016000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:52014000-52016000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:52014200-52015800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:52014400-52015600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:52014400-52015600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:52014400-52017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:52014600-52015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:52015200-52016200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:52015200-52016200	Enhancers	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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