Variant report

Variant	rs2283387
Chromosome Location	chr14:72818384-72818385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10483844	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12147284	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12891167	1.00[ASW][hapmap];0.90[GIH][hapmap]
rs1402065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MKK][hapmap];0.85[EUR][1000 genomes]
rs1520329	1.00[ASW][hapmap];0.91[GIH][hapmap]
rs17110829	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs17111029	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17111047	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2079501	1.00[ASW][hapmap]
rs2238193	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238210	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs2238232	0.90[GIH][hapmap]
rs2238233	0.90[GIH][hapmap]
rs2238237	1.00[ASW][hapmap];0.90[GIH][hapmap]
rs2239226	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239236	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2239240	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2239242	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2239245	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2239252	1.00[CEU][hapmap]
rs2239253	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs2239254	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs2239260	1.00[GIH][hapmap]
rs2283386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283389	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.92[EUR][1000 genomes]
rs2283394	1.00[GIH][hapmap]
rs2283395	1.00[GIH][hapmap]
rs34034575	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34062036	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34755616	0.82[EUR][1000 genomes]
rs35129690	0.81[EUR][1000 genomes]
rs35291137	0.85[EUR][1000 genomes]
rs35981409	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899429	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs4899431	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4899432	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4903011	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs55662698	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66507723	0.82[EUR][1000 genomes]
rs7155750	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[EUR][1000 genomes]
rs7156265	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs72726116	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8015237	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8019126	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv2757573	chr14:72802736-72819684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759995	chr14:72802736-72819684	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72814200-72818600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72814800-72818400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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