Variant report

Variant	rs9594288
Chromosome Location	chr13:39238888-39238889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12867926	1.00[AMR][1000 genomes]
rs34003364	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9594282	1.00[AMR][1000 genomes]
rs9603414	1.00[CEU][hapmap];0.86[EUR][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	nsv832584	chr13:39074265-39284724	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39233000-39240200	Enhancers	Fetal Lung	lung
2	chr13:39234800-39239600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:39236600-39241400	Weak transcription	Brain Germinal Matrix	brain
4	chr13:39236800-39239200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:39238600-39239600	Enhancers	NHEK	skin
6	chr13:39238800-39239200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39238800-39239400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:39238800-39239400	Enhancers	HMEC	breast

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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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