Variant report

Variant	rs2280567
Chromosome Location	chr3:47614413-47614414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47612398..47614279-chr3:47614350..47617253,3	K562	blood:
2	chr3:47612435..47614655-chr3:47651958..47654433,2	K562	blood:
3	chr3:47613245..47616715-chr3:47617848..47623047,5	K562	blood:
4	chr3:47597539..47601174-chr3:47612782..47615895,3	K562	blood:

Variant related genes	Relation type
ENSG00000173473	Chromatin interaction
ENSG00000114646	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1014228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10865948	0.89[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11130138	0.88[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11130139	0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11130144	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11130145	0.81[EUR][1000 genomes]
rs11130146	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11130148	1.00[CEU][hapmap]
rs11712152	0.82[EUR][1000 genomes]
rs11712464	1.00[CEU][hapmap]
rs11716582	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11929303	0.92[EUR][1000 genomes]
rs12489865	1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12492915	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12495204	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs12498027	0.81[EUR][1000 genomes]
rs12635438	1.00[CEU][hapmap]
rs12636198	0.96[EUR][1000 genomes]
rs12636863	0.84[EUR][1000 genomes]
rs13061412	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13063042	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs13069142	0.84[EUR][1000 genomes]
rs13081356	0.81[EUR][1000 genomes]
rs13084555	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13085978	0.93[EUR][1000 genomes]
rs13091913	1.00[CEU][hapmap]
rs13094264	1.00[CEU][hapmap]
rs1403578	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1403579	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1464614	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17079785	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2047559	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2049300	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2133601	0.92[CEU][hapmap];0.96[YRI][hapmap]
rs2140335	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2293226	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2882611	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs34252990	0.86[EUR][1000 genomes]
rs34616865	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35167544	0.90[EUR][1000 genomes]
rs36033865	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3732530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755637	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs3755638	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3772403	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4274776	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4858801	0.92[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4858835	0.80[EUR][1000 genomes]
rs4858836	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4858842	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4858846	1.00[CEU][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes]
rs4858851	1.00[CEU][hapmap]
rs56746603	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs60110914	0.95[EUR][1000 genomes]
rs60322343	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61620099	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61675361	0.93[EUR][1000 genomes]
rs6442070	0.80[EUR][1000 genomes]
rs6442071	0.80[EUR][1000 genomes]
rs6442072	0.87[EUR][1000 genomes]
rs6442082	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6767896	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6768699	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6772301	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs6774170	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6777632	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6782707	0.81[EUR][1000 genomes]
rs6784946	0.86[EUR][1000 genomes]
rs6785031	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6785669	1.00[CEU][hapmap]
rs6786001	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6789835	0.89[EUR][1000 genomes]
rs6792497	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6806860	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs7429162	1.00[CEU][hapmap]
rs7613934	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs7618758	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs7621236	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7624474	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7631950	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7638103	1.00[CEU][hapmap]
rs7642691	0.89[EUR][1000 genomes]
rs7645846	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs868255	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs869508	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs870622	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs883661	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs883662	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs883663	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9681917	1.00[CEU][hapmap]
rs9820051	0.80[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2280567	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs2280567	MRPS18AP1	cis	Nerve Tibial	GTEx
rs2280567	ZNF589	cis	Nerve Tibial	GTEx
rs2280567	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs2280567	NME6	cis	Esophagus Muscularis	GTEx
rs2280567	ZNF589	cis	Artery Tibial	GTEx
rs2280567	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs2280567	MRPS18AP1	cis	lung	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47608600-47618200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:47610800-47615200	Weak transcription	Fetal Heart	heart
3	chr3:47610800-47615400	Weak transcription	Right Ventricle	heart
4	chr3:47612000-47616400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:47612200-47616000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:47612400-47615400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:47612400-47615600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:47612600-47614600	Genic enhancers	Fetal Brain Female	brain
9	chr3:47612600-47615400	Enhancers	Brain Germinal Matrix	brain
10	chr3:47612600-47615800	Enhancers	Brain Angular Gyrus	brain
11	chr3:47612600-47616000	Enhancers	Brain Hippocampus Middle	brain
12	chr3:47612800-47616000	Enhancers	Brain Anterior Caudate	brain
13	chr3:47612800-47617200	Enhancers	Fetal Brain Male	brain
14	chr3:47613600-47615800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:47614000-47615800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:47614200-47614600	Weak transcription	Brain Substantia Nigra	brain
17	chr3:47614200-47615600	Enhancers	Fetal Muscle Leg	muscle
18	chr3:47614400-47614600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:47614400-47614800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:47614400-47616000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:47614400-47616000	Enhancers	Brain Cingulate Gyrus	brain

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