Variant report

Variant	rs8013827
Chromosome Location	chr14:105970176-105970177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105967019..105968917-chr14:105969216..105971948,3	K562	blood:
2	chr14:105968511..105971018-chr14:105977126..105978783,2	K562	blood:
3	chr14:105969166..105970687-chr14:105992974..105994933,2	MCF-7	breast:
4	chr14:105969416..105971812-chr14:105972417..105975163,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184986	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10133083	0.89[EUR][1000 genomes]
rs10136015	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139300	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139744	0.89[EUR][1000 genomes]
rs10147392	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]
rs10151805	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10152050	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11622603	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11624007	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs11628497	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12100587	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs12717698	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893999	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13379293	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28402171	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28431397	0.89[EUR][1000 genomes]
rs28620005	0.81[ASN][1000 genomes]
rs34564731	0.90[EUR][1000 genomes]
rs35240373	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35471125	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35511437	0.91[EUR][1000 genomes]
rs35590487	0.95[CEU][hapmap]
rs35592422	0.88[ASN][1000 genomes]
rs35723046	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35921705	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4074453	0.94[CEU][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs4074937	0.89[ASN][1000 genomes]
rs4075104	0.95[CEU][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs4075105	0.95[CEU][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs55958808	0.89[EUR][1000 genomes]
rs56057552	0.83[ASN][1000 genomes]
rs56142547	0.92[ASN][1000 genomes]
rs58087925	0.85[EUR][1000 genomes]
rs66710832	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7141834	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7160747	0.95[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72713322	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713323	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73373742	0.80[ASN][1000 genomes]
rs8003942	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004007	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005568	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013055	0.95[CEU][hapmap]
rs8014713	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014913	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8021330	0.90[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[MEX][hapmap];0.90[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8013827	TMEM121	cis	lymphoblastoid	seeQTL
rs8013827	TMEM121	cis	Nerve Tibial	GTEx
rs8013827	IGH@	cis	multi-tissue	Pritchard
rs8013827	TMEM121	cis	multi-tissue	Pritchard
rs8013827	TMEM121	cis	Liver	GTEx
rs8013827	C14orf80	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105957800-105971800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:105958400-105973800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:105960000-105970800	Weak transcription	Fetal Brain Female	brain
4	chr14:105964800-105970600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:105965600-105974400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:105966600-105970600	Weak transcription	Fetal Intestine Small	intestine
7	chr14:105967000-105970600	Weak transcription	A549	lung
8	chr14:105967000-105970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:105967000-105970800	Enhancers	HepG2	liver
10	chr14:105967200-105970600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:105967400-105970800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links