Variant report

Variant	rs4853719
Chromosome Location	chr2:191457454-191457455
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	chr2:191450640..191452200-chr2:191456453..191459189,2	MCF-7	breast:
2	chr2:191454528..191456275-chr2:191456958..191459921,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10165399	0.80[AFR][1000 genomes]
rs10169169	0.81[EUR][1000 genomes]
rs10171376	0.87[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs10173975	0.81[EUR][1000 genomes]
rs10179262	0.87[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs10185147	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs10185228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189140	0.81[EUR][1000 genomes]
rs10208737	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs10209340	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs10737936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11553601	0.86[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs11695439	0.82[CHB][hapmap]
rs13031452	0.81[EUR][1000 genomes]
rs13384743	0.87[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs13386210	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs13388162	0.87[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs13395233	0.86[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs13398741	0.87[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs13405215	0.81[EUR][1000 genomes]
rs13410179	0.82[CHB][hapmap]
rs13412663	0.82[CHB][hapmap]
rs13417310	0.81[EUR][1000 genomes]
rs13418943	0.80[EUR][1000 genomes]
rs13429315	0.80[EUR][1000 genomes]
rs3811608	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs4283453	0.82[CHB][hapmap]
rs4321393	0.80[AFR][1000 genomes]
rs4853712	0.82[CHB][hapmap]
rs58210597	0.81[EUR][1000 genomes]
rs58253207	0.81[EUR][1000 genomes]
rs6434401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054092	0.81[EUR][1000 genomes]
rs7556716	0.87[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs7560045	0.81[EUR][1000 genomes]
rs7562013	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs7564107	0.86[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs7574844	0.81[EUR][1000 genomes]
rs7584379	0.81[EUR][1000 genomes]
rs7594994	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs7609330	0.87[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs894072	0.82[CHB][hapmap]
rs8962	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs9288174	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs9967829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4853719	FLJ20160	cis	multi-tissue	Pritchard
rs4853719	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191448800-191461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:191449000-191457800	Weak transcription	Hela-S3	cervix
3	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
5	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:191452200-191458000	Weak transcription	Left Ventricle	heart
8	chr2:191454000-191457800	Weak transcription	K562	blood
9	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
11	chr2:191457000-191458800	Enhancers	NHDF-Ad	bronchial
12	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
13	chr2:191457200-191458400	Enhancers	Osteobl	bone
14	chr2:191457200-191458800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:191457200-191461000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain

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