Variant report

Variant	rs2239260
Chromosome Location	chr14:72734342-72734343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72720189..72722386-chr14:72732098..72734975,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12100639	0.85[YRI][hapmap]
rs12881198	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12891167	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12897241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13329057	0.85[YRI][hapmap]
rs1402065	1.00[GIH][hapmap]
rs1520327	0.85[ASN][1000 genomes]
rs1520329	0.90[GIH][hapmap]
rs17109573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17109589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs2079501	0.83[JPT][hapmap]
rs2238203	0.83[JPT][hapmap]
rs2238208	0.83[JPT][hapmap]
rs2238210	1.00[GIH][hapmap]
rs2238219	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[ASN][1000 genomes]
rs2238220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2238223	0.91[ASN][1000 genomes]
rs2238224	0.91[ASN][1000 genomes]
rs2238229	0.83[CHB][hapmap]
rs2238230	0.83[CHB][hapmap]
rs2238232	0.83[CHB][hapmap];0.90[GIH][hapmap]
rs2238233	0.90[GIH][hapmap]
rs2238237	0.90[GIH][hapmap]
rs2239226	1.00[GIH][hapmap]
rs2239236	1.00[GIH][hapmap]
rs2239253	1.00[GIH][hapmap]
rs2239254	1.00[GIH][hapmap]
rs2239256	0.83[JPT][hapmap]
rs2239262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2283386	1.00[GIH][hapmap]
rs2283387	1.00[GIH][hapmap]
rs2283389	1.00[GIH][hapmap]
rs2283394	1.00[GIH][hapmap]
rs2283395	1.00[GIH][hapmap]
rs2283399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2283400	0.97[ASN][1000 genomes]
rs34122902	0.85[ASN][1000 genomes]
rs35413081	0.91[ASN][1000 genomes]
rs36162266	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4899429	1.00[GIH][hapmap]
rs4903000	0.91[ASN][1000 genomes]
rs4903005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs56263585	0.97[ASN][1000 genomes]
rs66823874	0.94[ASN][1000 genomes]
rs699359	0.89[AFR][1000 genomes]
rs7144604	0.85[YRI][hapmap]
rs7155750	1.00[GIH][hapmap]
rs7156265	1.00[GIH][hapmap];0.83[JPT][hapmap]
rs7156404	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs722561	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs72721816	0.91[ASN][1000 genomes]
rs8019126	1.00[GIH][hapmap]
rs847233	0.85[YRI][hapmap]
rs847246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs847247	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs847248	0.86[AFR][1000 genomes]
rs847249	0.80[AFR][1000 genomes]
rs847251	0.86[ASW][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs847256	0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs847257	0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs847260	0.86[ASW][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs847261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72723400-72747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72730600-72735800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72732000-72735200	Weak transcription	Fetal Brain Male	brain
4	chr14:72732200-72737000	Weak transcription	Left Ventricle	heart
5	chr14:72732600-72751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:72733000-72736800	Weak transcription	Brain Anterior Caudate	brain
7	chr14:72733000-72737000	Weak transcription	Right Ventricle	heart
8	chr14:72733400-72735000	Enhancers	Fetal Heart	heart
9	chr14:72733800-72734600	Enhancers	Adipose Nuclei	Adipose

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