Variant report

Variant	rs9483632
Chromosome Location	chr6:134259753-134259754
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:
4	chr6:134259723..134262365-chr6:134277742..134281079,4	K562	blood:

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17063228	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs17063245	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1883876	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2200285	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs2239558	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273097	0.92[EUR][1000 genomes]
rs34569027	0.90[EUR][1000 genomes]
rs3777893	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs3777894	0.90[EUR][1000 genomes]
rs3777896	0.90[EUR][1000 genomes]
rs3777899	1.00[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs41286224	0.92[EUR][1000 genomes]
rs4896017	0.90[EUR][1000 genomes]
rs56011629	0.90[EUR][1000 genomes]
rs57486657	0.92[EUR][1000 genomes]
rs60898069	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6902440	1.00[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs73548792	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73774169	0.90[EUR][1000 genomes]
rs73774170	0.90[EUR][1000 genomes]
rs9483631	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9483634	0.88[EUR][1000 genomes]
rs9483635	0.90[EUR][1000 genomes]
rs9483639	0.90[EUR][1000 genomes]
rs9493768	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9493770	0.87[EUR][1000 genomes]
rs9493771	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9493772	0.90[EUR][1000 genomes]
rs9493773	0.88[EUR][1000 genomes]
rs9493774	0.90[EUR][1000 genomes]
rs9493777	0.90[EUR][1000 genomes]
rs9493780	0.90[EUR][1000 genomes]
rs9493786	0.90[EUR][1000 genomes]
rs9493790	0.85[CHB][hapmap];0.86[JPT][hapmap]

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
rs9483632	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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