Variant report

Variant	rs715120
Chromosome Location	chr12:121068353-121068354
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1168067	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1168069	0.92[ASN][1000 genomes]
rs1168070	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12423417	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2461507	0.85[CHD][hapmap];0.83[JPT][hapmap]
rs2673617	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2686552	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2686555	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2859263	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs473121	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4766975	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767921	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs495265	0.86[ASN][1000 genomes]
rs496212	0.86[ASN][1000 genomes]
rs513175	0.90[CHB][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs522632	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs526007	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs555379	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs568489	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs569499	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7305821	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs715120	UNC119B	cis	parietal	SCAN
rs715120	TAOK3	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121064000-121069000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121066000-121069400	Enhancers	Fetal Brain Male	brain
3	chr12:121066800-121068400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121067600-121069200	Enhancers	Brain Angular Gyrus	brain
5	chr12:121067600-121069200	Enhancers	Brain Germinal Matrix	brain
6	chr12:121067800-121068600	Enhancers	Brain Hippocampus Middle	brain
7	chr12:121067800-121068800	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:121067800-121069000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr12:121067800-121069400	Enhancers	Fetal Brain Female	brain
10	chr12:121068000-121068400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:121068000-121068800	Enhancers	Brain Anterior Caudate	brain
12	chr12:121068000-121068800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:121068000-121068800	Enhancers	Brain Substantia Nigra	brain
14	chr12:121068000-121069000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:121068200-121069000	Enhancers	Placenta Amnion	Placenta Amnion

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