Variant report

Variant	rs3130276
Chromosome Location	chr6:33336930-33336931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33267122..33269021-chr6:33335374..33337142,2	K562	blood:
2	chr6:33243900..33246250-chr6:33334641..33337125,2	K562	blood:
3	chr6:33290417..33292020-chr6:33336190..33337751,2	K562	blood:

Variant related genes	Relation type
ENSG00000204209	Chromatin interaction
ENSG00000235863	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2743	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3117320	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130001	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130002	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130007	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3130015	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3130274	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130275	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs371005	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs376006	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs391500	0.82[AMR][1000 genomes]
rs420714	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs442745	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs456993	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs459927	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs461887	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs461964	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs465223	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs465474	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs465506	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs465877	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs467065	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6942045	0.84[AMR][1000 genomes]
rs9278025	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9278029	0.82[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3130276	CDKN1A	cis	parietal	SCAN
rs3130276	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 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	chr6:33333600-33340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:33335600-33340200	Weak transcription	K562	blood

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