Variant report

Variant	rs17727130
Chromosome Location	chr12:83323342-83323343
allele	A/G
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:11)

rs_ID	r²[population]
rs12810016	0.85[GIH][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes]
rs12811945	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs12822640	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12833489	1.00[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34165699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573775	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71450910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297217	0.81[AMR][1000 genomes]
rs7300837	0.85[GIH][hapmap]
rs7956157	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17727130	PERQ1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83293200-83324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
4	chr12:83307200-83324200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
6	chr12:83313800-83324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:83316600-83328800	Weak transcription	Pancreas	Pancrea
8	chr12:83316800-83324200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:83317000-83323800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:83317000-83325200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:83318800-83324600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:83318800-83325200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:83319400-83325000	Weak transcription	Left Ventricle	heart
14	chr12:83321000-83324200	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:83321000-83324200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:83321200-83324000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:83321400-83324200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:83321600-83325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:83322000-83325200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:83322000-83325400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:83322200-83327200	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:83322600-83325400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:83322800-83327200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:83323200-83328000	Strong transcription	Monocytes-CD14+_RO01746	blood

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