Variant report

Variant	rs7783422
Chromosome Location	chr7:14272999-14273000
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10486042	0.94[CEU][hapmap];0.89[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11514732	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11514733	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12699581	0.85[GIH][hapmap]
rs13241742	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17167987	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17167991	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34965289	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35652218	0.92[EUR][1000 genomes]
rs56836294	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7783025	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs985105	0.89[CEU][hapmap];0.89[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1025437	chr7:14226741-14295671	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
4	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
rs7783422	PRPS1L1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
2	chr7:14271800-14275600	Enhancers	Fetal Intestine Small	intestine
3	chr7:14272000-14277000	Enhancers	Fetal Intestine Large	intestine
4	chr7:14272200-14273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:14272400-14273600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:14272600-14273600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:14272600-14273600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:14272600-14273800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:14272600-14273800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:14272600-14273800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:14272800-14273000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:14272800-14273400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:14272800-14273400	Enhancers	NHEK	skin
14	chr7:14272800-14273600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:14272800-14273600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:14272800-14273800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:14272800-14273800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:14272800-14273800	Enhancers	NH-A	brain
19	chr7:14272800-14274000	Enhancers	Rectal Mucosa Donor 31	rectum

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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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