Variant report

Variant	rs1411552
Chromosome Location	chr13:110371264-110371265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1004409	0.81[AMR][1000 genomes]
rs1550041	0.81[AMR][1000 genomes]
rs1550044	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1556225	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1928937	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4773073	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61962673	0.81[AMR][1000 genomes]
rs7336416	0.89[ASN][1000 genomes]
rs7990738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8000638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs892672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs913947	0.94[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs913952	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9301407	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559633	0.81[AMR][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	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1411552	ABHD13	cis	parietal	SCAN
rs1411552	IRS2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110365000-110372000	Weak transcription	Fetal Lung	lung
2	chr13:110367400-110372200	Weak transcription	Ovary	ovary
3	chr13:110368400-110372000	Strong transcription	Dnd41	blood
4	chr13:110368600-110371800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:110368600-110371800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:110368600-110377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr13:110368800-110372000	Weak transcription	K562	blood
8	chr13:110369000-110372000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr13:110369000-110372000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:110369200-110376800	Weak transcription	Adipose Nuclei	Adipose
11	chr13:110369400-110372400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:110370000-110372600	Enhancers	Liver	Liver
13	chr13:110370200-110372000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:110370200-110374000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:110370400-110371600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:110371200-110371400	Enhancers	Brain Hippocampus Middle	brain
17	chr13:110371200-110373000	Enhancers	A549	lung

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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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