Variant report

Variant	rs12699581
Chromosome Location	chr7:14258834-14258835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10486042	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs12536853	1.00[YRI][hapmap]
rs17708126	1.00[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17775181	1.00[YRI][hapmap]
rs34965289	0.86[ASN][1000 genomes]
rs56836294	0.84[ASN][1000 genomes]
rs6977358	1.00[YRI][hapmap]
rs7783025	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7783422	0.85[GIH][hapmap]
rs985105	0.87[GIH][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1015312	chr7:14092753-14266917	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1021056	chr7:14162525-14269443	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1025437	chr7:14226741-14295671	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv1799041	chr7:14253924-14265179	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv1033406	chr7:14258197-14294745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12699581	PRPS1L1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
2	chr7:14257400-14259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:14258000-14259400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:14258000-14259400	Enhancers	Fetal Intestine Large	intestine
5	chr7:14258200-14259200	Enhancers	Liver	Liver
6	chr7:14258200-14259200	Enhancers	Fetal Intestine Small	intestine
7	chr7:14258600-14259200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:14258600-14264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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