Variant report

Variant	rs12488603
Chromosome Location	chr3:143044440-143044441
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:13)

rs_ID	r²[population]
rs10935487	0.81[EUR][1000 genomes]
rs1112189	0.83[CEU][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs12493473	0.87[EUR][1000 genomes]
rs17574671	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17574746	0.88[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs17636943	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17637467	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17638168	0.83[CHD][hapmap];0.81[GIH][hapmap]
rs6768217	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6796961	0.82[EUR][1000 genomes]
rs6799793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73008231	0.89[EUR][1000 genomes]
rs7632299	0.82[TSI][hapmap]

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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12488603	ACAP3	trans	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
2	chr3:143026600-143047400	Weak transcription	Spleen	Spleen
3	chr3:143029400-143045800	Weak transcription	Adipose Nuclei	Adipose
4	chr3:143029800-143045200	Weak transcription	Primary T cells from cord blood	blood
5	chr3:143033800-143048400	Weak transcription	Fetal Stomach	stomach
6	chr3:143034400-143047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:143034400-143048600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:143037800-143045800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:143038200-143045600	Weak transcription	Fetal Lung	lung
10	chr3:143039200-143045200	Weak transcription	Fetal Thymus	thymus
11	chr3:143040400-143045200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:143040800-143045400	Weak transcription	Primary B cells from cord blood	blood
13	chr3:143041400-143045200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:143043400-143048400	Weak transcription	Lung	lung
15	chr3:143043800-143045000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:143043800-143045200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:143044000-143044800	Enhancers	K562	blood
18	chr3:143044400-143044600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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