Variant report

Variant	rs3130002
Chromosome Location	chr6:33334880-33334881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:33334817-33335508	K562	blood:	n/a	chr6:33335144-33335157

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33243900..33246250-chr6:33334641..33337125,2	K562	blood:
2	chr6:33280766..33282554-chr6:33333161..33335162,2	K562	blood:

Variant related genes	Relation type
LYPLA2P1	TF binding region
ENSG00000235863	Chromatin interaction
ENSG00000231925	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2743	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3117320	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130001	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130004	0.82[AMR][1000 genomes]
rs3130007	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3130015	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130274	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130275	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130276	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs371005	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs376006	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs420714	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs442745	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs456993	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs459927	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs461887	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs461964	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs465223	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs465474	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs465506	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs465877	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs467065	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs583129	0.81[AMR][1000 genomes]
rs9278025	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv970110	chr6:33331311-33342922	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3130002	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33324600-33340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33332800-33340200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:33333000-33340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:33333400-33335000	Weak transcription	K562	blood
5	chr6:33333600-33340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:33334800-33335800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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