Variant report

Variant	rs34621392
Chromosome Location	chr7:38755752-38755753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10085487	1.00[AFR][1000 genomes]
rs1012976	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10224856	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225415	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225550	1.00[AFR][1000 genomes]
rs10242407	1.00[AFR][1000 genomes]
rs10254354	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254873	1.00[AFR][1000 genomes]
rs10270427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10951574	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983387	1.00[AFR][1000 genomes]
rs12701656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701661	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701671	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13224619	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224857	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229445	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230196	0.87[EUR][1000 genomes]
rs13231372	1.00[AFR][1000 genomes]
rs13235997	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236092	1.00[AFR][1000 genomes]
rs13238093	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17240051	1.00[ASN][1000 genomes]
rs2040878	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079546	1.00[AFR][1000 genomes]
rs2189854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190667	1.00[AFR][1000 genomes]
rs2190668	1.00[AFR][1000 genomes]
rs2214667	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214668	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215032	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2245773	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286089	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286093	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286101	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392599	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392610	1.00[ASN][1000 genomes]
rs34349310	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34358406	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34886315	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34997080	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35220172	1.00[ASN][1000 genomes]
rs35400125	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35632362	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35667896	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35816439	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35843038	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36004953	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36114334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36121032	1.00[AFR][1000 genomes]
rs37476	1.00[AFR][1000 genomes]
rs4720300	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723780	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723781	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723784	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723787	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723804	1.00[ASN][1000 genomes]
rs6462871	1.00[AFR][1000 genomes]
rs6947695	1.00[AFR][1000 genomes]
rs6949958	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951429	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960945	1.00[ASN][1000 genomes]
rs6963090	1.00[ASN][1000 genomes]
rs6967384	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974764	1.00[AFR][1000 genomes]
rs6975410	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976302	1.00[ASN][1000 genomes]
rs6976579	1.00[ASN][1000 genomes]
rs6979423	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71548633	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73370730	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757685	1.00[ASN][1000 genomes]
rs758088	1.00[ASN][1000 genomes]
rs7782140	1.00[ASN][1000 genomes]
rs7782277	1.00[ASN][1000 genomes]
rs7787423	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790054	1.00[AFR][1000 genomes]
rs7802052	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976352	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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	nsv887965	chr7:38706384-38793243	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34621392	FAM183B	cis	lung	GTEx
rs34621392	VPS41	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38748800-38756200	Weak transcription	Fetal Brain Female	brain
2	chr7:38749000-38803600	Weak transcription	Fetal Brain Male	brain
3	chr7:38754200-38758200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:38754200-38760600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:38754600-38759800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:38754600-38760800	Weak transcription	GM12878-XiMat	blood
7	chr7:38755000-38791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:38755600-38760800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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