Variant report

Variant	rs13418573
Chromosome Location	chr2:205418513-205418514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10185786	0.94[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190012	0.81[ASW][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs10203606	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10203725	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10932074	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10932075	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11899900	0.83[AMR][1000 genomes]
rs11904064	0.83[AMR][1000 genomes]
rs13393438	1.00[EUR][1000 genomes]
rs13414039	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13428250	0.83[AMR][1000 genomes]
rs4645000	0.91[AMR][1000 genomes]
rs56086550	0.83[AMR][1000 genomes]
rs6749339	0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs73057234	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73057258	0.83[AMR][1000 genomes]
rs7565043	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs13418573	TAOK1	trans	brain	seeQTL
rs13418573	LAMB3	trans	brain	seeQTL
rs13418573	ADRBK2	trans	brain	seeQTL
rs13418573	BEND5	trans	brain	seeQTL
rs13418573	NUFIP2	trans	brain	seeQTL
rs13418573	DDX6	trans	brain	seeQTL
rs13418573	CNST	trans	brain	seeQTL
rs13418573	VGLL4	trans	brain	seeQTL
rs13418573	FCER2	trans	brain	seeQTL
rs13418573	SLC5A3	trans	brain	seeQTL
rs13418573	GPR3	trans	brain	seeQTL
rs13418573	KIAA1549	trans	brain	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
3	chr2:205411800-205419400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
6	chr2:205416000-205419000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:205416200-205420800	Weak transcription	HSMM	muscle
8	chr2:205416400-205428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:205416600-205427000	Weak transcription	Fetal Lung	lung
10	chr2:205416800-205423600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:205417200-205418800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:205417200-205419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:205417200-205425200	Weak transcription	Ovary	ovary
14	chr2:205417200-205425800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:205417400-205424400	Weak transcription	HSMMtube	muscle
16	chr2:205417600-205434600	Weak transcription	Colon Smooth Muscle	Colon

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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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