Variant report

Variant	rs10147392
Chromosome Location	chr14:105978537-105978538
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105968511..105971018-chr14:105977126..105978783,2	K562	blood:
2	chr14:105977392..105979930-chr14:105991783..105994610,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184986	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10133083	0.97[EUR][1000 genomes]
rs10136015	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139300	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139744	0.98[EUR][1000 genomes]
rs10151805	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10152050	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11622603	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624007	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628497	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12100587	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs12101234	0.82[ASN][1000 genomes]
rs12717698	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12893999	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13379293	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28402171	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28431397	0.98[EUR][1000 genomes]
rs28620005	0.84[ASN][1000 genomes]
rs28662250	0.86[EUR][1000 genomes]
rs28719751	0.88[EUR][1000 genomes]
rs28733392	0.85[EUR][1000 genomes]
rs34564731	0.89[EUR][1000 genomes]
rs35240373	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35471125	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35511437	0.90[EUR][1000 genomes]
rs35590487	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs35592422	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35723046	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35921705	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4074453	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4074937	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4075104	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4075105	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs55958808	0.98[EUR][1000 genomes]
rs56057552	0.86[ASN][1000 genomes]
rs56142547	0.90[ASN][1000 genomes]
rs58087925	0.95[EUR][1000 genomes]
rs66710832	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7141834	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7160747	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72713322	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713323	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73373742	0.83[ASN][1000 genomes]
rs8003942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004007	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013055	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs8013827	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8014713	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014913	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021330	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10147392	TMEM121	cis	Lymphoblastoid	GTEx
rs10147392	TMEM121	cis	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105977800-105978600	Flanking Active TSS	Hela-S3	cervix
2	chr14:105977800-105979400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:105978000-105978800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr14:105978200-105978600	Enhancers	Primary B cells from cord blood	blood
5	chr14:105978200-105978600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:105978200-105978600	Bivalent Enhancer	Placenta	Placenta
7	chr14:105978200-105978800	Bivalent Enhancer	NHEK	skin
8	chr14:105978400-105978600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:105978400-105978600	Active TSS	A549	lung

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