Variant report

Variant	rs55903152
Chromosome Location	chr6:133861679-133861680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:133861468-133861918	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr6:133861481-133861896	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000272428	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11964505	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11964979	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11968532	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11969376	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11969485	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11970169	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12110683	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17053540	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17053541	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17053542	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17643040	0.93[EUR][1000 genomes]
rs3777886	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777887	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822938	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4053065	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41286206	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41286212	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55865377	0.99[EUR][1000 genomes]
rs59080198	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60337650	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60797218	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67351386	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67720873	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911415	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911552	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6912858	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921393	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6929938	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6934616	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73003668	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7453259	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7743115	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7749529	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7767007	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7771096	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7771144	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv886681	chr6:133833284-133869617	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55903152	RP1-283K11.3	cis	lung	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133823200-133869600	Weak transcription	Psoas Muscle	Psoas
2	chr6:133826600-133862400	Weak transcription	Fetal Lung	lung
3	chr6:133837400-133863600	Weak transcription	A549	lung
4	chr6:133854800-133866200	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:133855000-133862800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:133855000-133863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:133860400-133862400	Enhancers	HSMMtube	muscle
8	chr6:133861200-133862600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:133861600-133872400	Weak transcription	HSMM	muscle

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