Variant report

Variant	rs2283393
Chromosome Location	chr14:72781413-72781414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1002105	0.86[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs12895250	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1402065	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17110829	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1879288	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1981604	0.88[EUR][1000 genomes]
rs2079501	0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2238197	0.91[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs2238198	0.91[CEU][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2238200	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2238203	0.85[CHB][hapmap]
rs2238208	0.85[CHB][hapmap]
rs2238209	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2238210	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2239237	0.81[CEU][hapmap]
rs2239252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2239253	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2239254	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2239256	0.85[CHB][hapmap]
rs2283394	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2283395	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs34755616	0.88[ASN][1000 genomes]
rs35291137	0.92[ASN][1000 genomes]
rs4899429	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs4899431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4899432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4903008	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs4903011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs66507723	0.92[ASN][1000 genomes]
rs7156265	0.86[CHB][hapmap]
rs72726116	0.82[EUR][1000 genomes]
rs8015237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8015476	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs847251	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs847260	1.00[GIH][hapmap];1.00[TSI][hapmap]

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	chr14:72775400-72782800	Enhancers	Fetal Stomach	stomach
2	chr14:72778000-72782400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:72781200-72781600	Enhancers	Colon Smooth Muscle	Colon
4	chr14:72781200-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72781200-72789400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:72781400-72782200	Enhancers	Fetal Lung	lung
7	chr14:72781400-72782400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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