Variant report

Variant	rs1168582
Chromosome Location	chr10:27917543-27917544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27863731..27866608-chr10:27917439..27919654,2	K562	blood:
2	chr10:27915568..27918420-chr10:27918885..27920818,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1168571	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168574	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1168585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1168588	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168589	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1631705	0.94[AFR][1000 genomes]
rs1687722	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1687723	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1687724	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1687730	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1687731	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1687732	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1687733	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1687735	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1687736	0.87[EUR][1000 genomes]
rs1690678	0.92[EUR][1000 genomes]
rs1690684	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1690685	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1690686	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2253327	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs2453213	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2491324	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2505134	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2815539	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv894985	chr10:27869503-27957785	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv894986	chr10:27904646-27957785	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168582	TBL1XR1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27910800-27923000	Weak transcription	Aorta	Aorta
2	chr10:27913600-27917800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:27914800-27917600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:27914800-27918000	Enhancers	NHDF-Ad	bronchial
5	chr10:27915000-27926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:27916000-27917800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:27916200-27918400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:27917200-27917800	Enhancers	Ovary	ovary
9	chr10:27917200-27918000	Enhancers	Fetal Stomach	stomach
10	chr10:27917200-27918200	Enhancers	Osteobl	bone

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