Variant report

Variant	rs4563005
Chromosome Location	chr15:82283954-82283955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:82282566..82284525-chr15:82337016..82339146,2	K562	blood:

Variant related genes	Relation type
ENSG00000183496	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11073032	0.88[CEU][hapmap]
rs11856043	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11857577	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12324755	0.85[GIH][hapmap]
rs12592587	0.87[EUR][1000 genomes]
rs12594239	0.80[EUR][1000 genomes]
rs12899461	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12901280	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12905306	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12914166	0.86[EUR][1000 genomes]
rs12916310	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12916537	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12917010	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1503063	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503064	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503066	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34268394	0.87[EUR][1000 genomes]
rs35411469	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7172661	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7175261	0.86[AMR][1000 genomes]
rs7177796	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7342622	0.86[EUR][1000 genomes]
rs8024021	0.90[EUR][1000 genomes]
rs8030818	0.87[EUR][1000 genomes]
rs8032116	0.89[EUR][1000 genomes]
rs8033692	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8035454	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8038252	0.89[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	nsv427964	chr15:81941520-82293593	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4563005	RP11-276M12.1	cis	lung	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82273800-82287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:82274200-82287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:82279800-82284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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