Variant report

Variant	rs10504361
Chromosome Location	chr8:63885100-63885101
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	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10504360	0.95[ASN][1000 genomes]
rs10957263	0.81[AFR][1000 genomes]
rs10957264	0.81[AFR][1000 genomes]
rs11545078	0.89[GIH][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985884	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985904	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989852	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11992253	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993022	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994355	0.85[AFR][1000 genomes]
rs16930045	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930047	0.82[AFR][1000 genomes]
rs16930051	0.82[AFR][1000 genomes]
rs16930060	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930066	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16930072	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17192653	0.95[ASN][1000 genomes]
rs17194931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1902232	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1902233	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1902234	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902235	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124294	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168316	0.83[AFR][1000 genomes]
rs2168317	0.85[AFR][1000 genomes]
rs2353363	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2353364	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2353365	0.87[AFR][1000 genomes]
rs2883147	0.87[AFR][1000 genomes]
rs2883148	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3780129	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4395892	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410897	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419801	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637820	0.81[AMR][1000 genomes]
rs4739034	0.85[AFR][1000 genomes]
rs55800505	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56034470	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213868	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339102	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57069084	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57776226	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58554293	0.82[ASN][1000 genomes]
rs58942648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59169978	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60751452	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60889737	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60897253	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61326296	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518338	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61629446	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508088	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508107	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508108	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508109	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508110	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508111	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508113	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62508118	0.82[AFR][1000 genomes]
rs62508123	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508154	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508155	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508156	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62508157	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508158	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510060	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510061	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510062	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510063	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510064	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472063	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs66790008	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983219	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983643	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983864	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983896	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997520	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004087	0.90[JPT][hapmap]
rs7015120	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7015302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656550	0.95[ASN][1000 genomes]
rs72658344	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72658396	0.95[ASN][1000 genomes]
rs72658400	0.95[ASN][1000 genomes]
rs72659813	0.93[ASN][1000 genomes]
rs7834301	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv890963	chr8:63846472-63885100	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv890964	chr8:63848556-63898146	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10504361	GGH	cis	Skin Sun Exposed Lower leg	GTEx
rs10504361	GGH	cis	Adipose Subcutaneous	GTEx
rs10504361	GGH	Cis_1M	lymphoblastoid	RTeQTL
rs10504361	GGH	cis	Artery Tibial	GTEx
rs10504361	GGH	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63868600-63895800	Weak transcription	Fetal Brain Female	brain
2	chr8:63878000-63892000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:63880200-63888000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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