Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:47597172..47600362-chr3:47601901..47605676,3	K562	blood:
2	chr3:47597484..47600327-chr3:47607469..47609987,3	K562	blood:
3	chr3:47597539..47601174-chr3:47612782..47615895,3	K562	blood:

Variant related genes	Relation type
ENSG00000244732	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10865948	0.82[EUR][1000 genomes]
rs11130138	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11917071	0.84[ASN][1000 genomes]
rs13084555	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35167544	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35533636	0.83[ASN][1000 genomes]
rs3755637	0.81[AMR][1000 genomes]
rs4858835	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4858836	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60110914	0.81[AMR][1000 genomes]
rs60992717	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6442070	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6442071	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6767896	0.81[AMR][1000 genomes]
rs6767996	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6780080	0.83[ASN][1000 genomes]
rs6780395	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6782707	0.83[ASN][1000 genomes]
rs6784946	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6785031	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6789835	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7642691	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9311409	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9820051	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9835605	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs9835605	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs9835605	ZNF589	cis	Nerve Tibial	GTEx
rs9835605	MRPS18AP1	cis	Nerve Tibial	GTEx
rs9835605	NME6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47584200-47607800	Weak transcription	Brain Germinal Matrix	brain
2	chr3:47595200-47602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:47595200-47605400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:47595200-47605600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:47595200-47612600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:47595400-47606600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:47596800-47607400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:47596800-47612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:47598400-47599600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:47598400-47600000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:47598400-47602800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:47598600-47606000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:47599000-47609400	Weak transcription	K562	blood

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