Variant report

Variant	rs1330540
Chromosome Location	chr13:110374130-110374131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110368698..110370963-chr13:110374114..110375940,2	K562	blood:
2	chr13:110373412..110375608-chr13:110378035..110379687,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1330539	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1330545	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1928936	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7323205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9521492	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9587971	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs980179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs992366	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs992367	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[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	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
rs1330540	ABHD13	cis	parietal	SCAN
rs1330540	C13orf28	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110368600-110377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:110369200-110376800	Weak transcription	Adipose Nuclei	Adipose
3	chr13:110372200-110374200	Enhancers	Brain Germinal Matrix	brain
4	chr13:110372200-110374200	Enhancers	HepG2	liver
5	chr13:110372600-110377800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:110372800-110374200	Enhancers	Dnd41	blood
7	chr13:110373000-110382000	Enhancers	Liver	Liver
8	chr13:110373200-110374200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:110373200-110377200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:110373200-110381200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:110373400-110377600	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:110373600-110374400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:110373600-110377200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:110373600-110377200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:110373600-110377200	Weak transcription	Brain Anterior Caudate	brain
16	chr13:110373600-110377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr13:110373600-110377800	Weak transcription	Brain Substantia Nigra	brain
18	chr13:110373600-110377800	Weak transcription	Stomach Mucosa	stomach
19	chr13:110373600-110381200	Weak transcription	Brain Angular Gyrus	brain
20	chr13:110373600-110381200	Weak transcription	Brain Inferior Temporal Lobe	brain

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