Variant report

Variant	rs4053065
Chromosome Location	chr6:133838914-133838915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11964505	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11964979	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969376	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969485	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11969724	1.00[CHB][hapmap]
rs11970169	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110683	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17053540	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17053541	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17053542	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17641157	1.00[CEU][hapmap]
rs17643040	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3777867	0.90[CHB][hapmap]
rs3777876	1.00[CHB][hapmap]
rs3777881	1.00[CHB][hapmap]
rs3777886	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777887	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822937	0.88[CEU][hapmap]
rs3822938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286206	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55865377	0.93[EUR][1000 genomes]
rs55903152	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59080198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60337650	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60797218	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67351386	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67720873	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911415	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911552	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912858	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921393	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934616	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73003668	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7453259	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7743115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749529	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767007	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7771096	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7771144	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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
rs4053065	RP1-283K11.3	cis	lung	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133823200-133869600	Weak transcription	Psoas Muscle	Psoas
2	chr6:133824200-133854200	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:133824400-133854800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:133824400-133861600	Weak transcription	Ovary	ovary
5	chr6:133825600-133857200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:133826400-133844800	Weak transcription	Fetal Kidney	kidney
7	chr6:133826600-133862400	Weak transcription	Fetal Lung	lung
8	chr6:133836800-133854000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:133837400-133839000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:133837400-133863600	Weak transcription	A549	lung
11	chr6:133838400-133839600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:133838600-133839000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:133838600-133839200	Strong transcription	Hela-S3	cervix
14	chr6:133838800-133839800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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