Variant report

Variant	rs72657378
Chromosome Location	chr7:21818567-21818568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57111797	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57417302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58818794	1.00[AMR][1000 genomes]
rs59429331	1.00[AMR][1000 genomes]
rs61063466	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61452339	1.00[AMR][1000 genomes]
rs73277728	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682678	1.00[AMR][1000 genomes]
rs73682680	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21813200-21818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21816200-21824400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:21817800-21818600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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