Variant report

Variant	rs17116363
Chromosome Location	chr14:72952247-72952248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72946242..72947994-chr14:72951542..72953819,3	K562	blood:
2	chr14:72951757..72954301-chr14:72956782..72959686,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10131497	0.80[CEU][hapmap]
rs12050430	0.90[CEU][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12161899	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1544524	0.80[CEU][hapmap]
rs1548685	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17780517	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2238177	0.90[CEU][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2238181	0.80[CEU][hapmap]
rs2239273	0.90[ASW][hapmap];0.90[CEU][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2239274	0.90[ASW][hapmap];0.90[CEU][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2239275	0.90[ASW][hapmap];0.90[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2239276	0.90[ASW][hapmap];0.90[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2283377	0.90[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3819549	0.80[CEU][hapmap];0.88[TSI][hapmap]
rs55830079	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55872112	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56134651	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57380844	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7159382	0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72726152	0.80[AMR][1000 genomes];0.84[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
2	chr14:72948400-72953600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72949400-72962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:72950000-72953400	Weak transcription	Adipose Nuclei	Adipose
5	chr14:72950200-72953200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:72952000-72952600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
7	chr14:72952200-72954400	Weak transcription	Right Ventricle	heart

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