Variant report

Variant	rs869508
Chromosome Location	chr3:47613302-47613303
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47612435..47614655-chr3:47651958..47654433,2	K562	blood:
2	chr3:47612398..47614279-chr3:47614350..47617253,3	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: 112 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1014228	0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10865948	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs11130138	0.88[CEU][hapmap];0.83[GIH][hapmap];0.80[JPT][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs11130139	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs11130143	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11130144	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs11130145	0.82[EUR][1000 genomes]
rs11130146	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs11130148	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs11707707	0.87[AMR][1000 genomes]
rs11711725	0.90[ASW][hapmap];1.00[YRI][hapmap]
rs11712152	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11712464	0.80[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11716582	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11927129	0.87[AMR][1000 genomes]
rs11929303	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12489865	1.00[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs12492915	0.89[EUR][1000 genomes]
rs12495204	0.96[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs12497921	0.81[EUR][1000 genomes]
rs12498027	0.83[EUR][1000 genomes]
rs12635438	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs12636198	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12636863	0.86[EUR][1000 genomes]
rs13061412	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13063042	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap]
rs13069142	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13081356	0.82[EUR][1000 genomes]
rs13084555	0.89[EUR][1000 genomes]
rs13085978	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13091913	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap]
rs13094264	1.00[CEU][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap]
rs1403578	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1403579	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1464614	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17079785	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs2047559	1.00[CEU][hapmap]
rs2049300	0.81[EUR][1000 genomes]
rs2133601	0.92[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap]
rs2140335	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs2280567	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2291903	0.81[JPT][hapmap]
rs2293226	1.00[CEU][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2882611	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs34252990	0.88[EUR][1000 genomes]
rs34616865	0.92[EUR][1000 genomes]
rs35167544	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35533636	0.80[EUR][1000 genomes]
rs35664069	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs36033865	0.87[EUR][1000 genomes]
rs3732530	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs3755637	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3755638	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3772403	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4274776	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858801	0.92[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858835	0.82[EUR][1000 genomes]
rs4858836	0.91[EUR][1000 genomes]
rs4858842	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858846	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs4858851	1.00[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs4858853	0.87[AMR][1000 genomes]
rs4858863	0.82[AMR][1000 genomes]
rs55823596	0.87[AMR][1000 genomes]
rs56376646	0.87[AMR][1000 genomes]
rs56746603	0.90[EUR][1000 genomes]
rs60110914	0.97[EUR][1000 genomes]
rs60322343	0.98[EUR][1000 genomes]
rs61620099	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61675361	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62263561	0.87[AMR][1000 genomes]
rs6442066	0.82[YRI][hapmap]
rs6442070	0.82[EUR][1000 genomes]
rs6442071	0.82[EUR][1000 genomes]
rs6442072	0.89[EUR][1000 genomes]
rs6442082	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap]
rs6442086	0.88[AMR][1000 genomes]
rs6767896	0.83[EUR][1000 genomes]
rs6768699	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap]
rs6772301	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs6774170	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6776963	0.89[AMR][1000 genomes]
rs6777632	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs6780080	0.80[EUR][1000 genomes]
rs6780395	0.80[EUR][1000 genomes]
rs6782707	0.81[EUR][1000 genomes]
rs6784946	0.88[EUR][1000 genomes]
rs6785031	0.90[EUR][1000 genomes]
rs6785669	1.00[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6786001	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs6789835	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6792497	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs6806860	0.92[CEU][hapmap];0.84[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs73085151	0.87[AMR][1000 genomes]
rs7429162	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs7613934	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7618758	1.00[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs7621236	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7624474	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7629850	0.82[AMR][1000 genomes]
rs7631950	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7638103	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs7642691	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7645846	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs868255	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870622	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883661	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs883663	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs900691	1.00[YRI][hapmap]
rs9681917	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs9820051	0.82[EUR][1000 genomes]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs869508	ZNF589	cis	parietal	SCAN
rs869508	ZNF589	cis	Nerve Tibial	GTEx
rs869508	MRPS18AP1	cis	Artery Tibial	GTEx
rs869508	MRPS18AP1	cis	lung	GTEx
rs869508	HYAL2	cis	cerebellum	SCAN
rs869508	SMARCC1	cis	cerebellum	SCAN
rs869508	ZNF589	cis	cerebellum	SCAN
rs869508	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs869508	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs869508	NME6	cis	Esophagus Muscularis	GTEx
rs869508	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs869508	MRPS18AP1	cis	Nerve Tibial	GTEx

Chromatin state (count:25 , 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	chr3:47612600-47614000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:47612600-47614200	Enhancers	Brain Substantia Nigra	brain
10	chr3:47612600-47614600	Genic enhancers	Fetal Brain Female	brain
11	chr3:47612600-47615400	Enhancers	Brain Germinal Matrix	brain
12	chr3:47612600-47615800	Enhancers	Brain Angular Gyrus	brain
13	chr3:47612600-47616000	Enhancers	Brain Hippocampus Middle	brain
14	chr3:47612800-47613400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:47612800-47613800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:47612800-47613800	Enhancers	Fetal Stomach	stomach
17	chr3:47612800-47614000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr3:47612800-47616000	Enhancers	Brain Anterior Caudate	brain
19	chr3:47612800-47617200	Enhancers	Fetal Brain Male	brain
20	chr3:47613000-47613600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:47613000-47613600	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr3:47613000-47614200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr3:47613200-47613400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:47613200-47613400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:47613200-47614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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