Variant report

Variant	rs39288
Chromosome Location	chr7:21454310-21454311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs39292	0.94[CEU][hapmap];0.83[AMR][1000 genomes]
rs39293	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs39294	0.94[CEU][hapmap];0.83[AMR][1000 genomes]
rs39296	0.89[CEU][hapmap]
rs39300	0.80[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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs39288	PRPS1L1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21450400-21454400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr7:21451800-21455000	Enhancers	K562	blood
3	chr7:21453000-21454600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr7:21453200-21454600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:21453200-21454600	Enhancers	Thymus	Thymus
6	chr7:21453200-21454800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:21453400-21454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:21453400-21457400	Weak transcription	Primary T cells from cord blood	blood
9	chr7:21453600-21459600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:21454200-21454400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr7:21454200-21457200	Weak transcription	Fetal Thymus	thymus

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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