Variant report

Variant	rs9483631
Chromosome Location	chr6:134259655-134259656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134258577..134261545-chr6:134287191..134289671,3	K562	blood:
2	chr6:134259055..134262632-chr6:134266342..134269518,3	K562	blood:
3	chr6:134258075..134267958-chr6:134268539..134275229,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10485159	1.00[JPT][hapmap]
rs17063199	1.00[JPT][hapmap]
rs17063210	1.00[JPT][hapmap]
rs17063219	1.00[JPT][hapmap]
rs2239558	0.88[EUR][1000 genomes]
rs2268068	1.00[JPT][hapmap]
rs2273097	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34569027	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777894	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777896	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs3777899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3822940	1.00[JPT][hapmap]
rs41286224	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4896015	1.00[JPT][hapmap]
rs4896017	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56011629	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57486657	0.98[EUR][1000 genomes]
rs60898069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6938805	1.00[JPT][hapmap]
rs73548792	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73774169	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73774170	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9483632	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9483634	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs9483635	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9483639	0.96[EUR][1000 genomes]
rs9493768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9493770	0.93[EUR][1000 genomes]
rs9493771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9493772	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9493773	0.95[EUR][1000 genomes]
rs9493774	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9493777	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9493780	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493786	0.96[EUR][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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv604701	chr6:134248060-134269657	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9483631	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134258000-134260000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:134258800-134260800	Weak transcription	K562	blood
3	chr6:134259400-134261000	Weak transcription	Adipose Nuclei	Adipose
4	chr6:134259600-134260800	Weak transcription	Liver	Liver

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