Variant report

Variant	rs72738789
Chromosome Location	chr1:220011361-220011362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1539452	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776017	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740948	0.91[ASN][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 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	chr1:220007000-220013400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220007400-220012600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:220007400-220012600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220008800-220012200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:220009000-220012600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:220009600-220012600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:220011000-220011400	Enhancers	Brain Hippocampus Middle	brain
8	chr1:220011200-220011800	Enhancers	K562	blood
9	chr1:220011200-220012600	Weak transcription	ES-UCSF4 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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