Variant report

Variant	rs6485721
Chromosome Location	chr11:47040854-47040855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10466478	0.86[ASN][1000 genomes]
rs1055447	0.81[ASN][1000 genomes]
rs1060573	0.86[ASN][1000 genomes]
rs10769230	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769233	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769234	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769239	0.89[ASN][1000 genomes]
rs10838649	0.85[AMR][1000 genomes]
rs10838654	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10838659	0.86[ASN][1000 genomes]
rs10838660	0.86[ASN][1000 genomes]
rs11039074	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039086	0.89[ASN][1000 genomes]
rs11039097	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11039105	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11039107	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11039112	0.86[ASN][1000 genomes]
rs11039119	0.85[ASN][1000 genomes]
rs11039124	0.82[ASN][1000 genomes]
rs11600668	0.85[ASN][1000 genomes]
rs12224096	0.86[ASN][1000 genomes]
rs12796744	0.89[ASN][1000 genomes]
rs12807887	0.83[ASN][1000 genomes]
rs1872896	0.86[ASN][1000 genomes]
rs1965952	0.86[ASN][1000 genomes]
rs2018527	0.86[ASN][1000 genomes]
rs4319472	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4579897	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4752952	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752957	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4752962	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4752963	0.84[ASN][1000 genomes]
rs4752967	0.86[ASN][1000 genomes]
rs4752971	0.83[ASN][1000 genomes]
rs57323109	0.85[ASN][1000 genomes]
rs6485722	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6485739	0.88[ASN][1000 genomes]
rs7103581	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7108427	0.88[ASN][1000 genomes]
rs7108902	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7118546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121418	0.86[ASN][1000 genomes]
rs7125807	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747650	0.86[ASN][1000 genomes]
rs7479189	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7937950	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7942473	0.89[ASN][1000 genomes]
rs7945315	0.89[ASN][1000 genomes]
rs7946709	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7947878	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9633886	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6485721	CTD-2384B9.1	cis	Nerve Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026600-47042200	Weak transcription	Small Intestine	intestine
2	chr11:47026800-47041000	Weak transcription	Hela-S3	cervix
3	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:47027200-47042000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
6	chr11:47027800-47048000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:47033000-47042000	Weak transcription	Fetal Lung	lung
8	chr11:47039600-47042000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:47040400-47041000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:47040600-47043000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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