Variant report

Variant	rs1568922
Chromosome Location	chr12:119447242-119447243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10775013	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12309091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1525949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525950	0.88[MKK][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs2393465	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490225	0.95[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6490226	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297741	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7966299	0.90[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7969449	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs869715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1568922	P2RX7	cis	parietal	SCAN
rs1568922	CABP1	cis	cerebellum	SCAN
rs1568922	RPLP0	cis	parietal	SCAN
rs1568922	NCRNA00262	cis	cerebellum	SCAN
rs1568922	RAB35	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119443000-119447600	Enhancers	Fetal Brain Male	brain
3	chr12:119446200-119447600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:119446400-119447400	Flanking Active TSS	Fetal Brain Female	brain
5	chr12:119446600-119447400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr12:119446600-119447600	Bivalent Enhancer	Fetal Stomach	stomach
7	chr12:119446800-119447400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:119446800-119447400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:119447000-119447400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:119447000-119447400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr12:119447000-119447400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:119447000-119447400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr12:119447000-119447400	Bivalent Enhancer	Fetal Lung	lung
14	chr12:119447000-119447400	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr12:119447000-119447600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:119447000-119450400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:119447000-119450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:119447200-119447400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr12:119447200-119447400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr12:119447200-119447400	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr12:119447200-119447600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:119447200-119447600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:119447200-119447800	Enhancers	Fetal Muscle Leg	muscle

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