Variant report

Variant	rs2238239
Chromosome Location	chr14:72674949-72674950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12147219	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147220	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12147238	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147792	0.92[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147803	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12891167	0.90[CEU][hapmap];0.93[AFR][1000 genomes]
rs12897241	0.90[CEU][hapmap];0.93[AFR][1000 genomes]
rs1520327	0.93[AFR][1000 genomes]
rs1520329	0.90[CEU][hapmap]
rs17109194	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17109324	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17109573	0.90[CEU][hapmap];0.93[AFR][1000 genomes]
rs1879288	0.90[CEU][hapmap]
rs2238200	0.81[CEU][hapmap]
rs2238203	0.90[CEU][hapmap]
rs2238208	0.90[CEU][hapmap]
rs2238209	0.80[CEU][hapmap]
rs2238210	0.90[CEU][hapmap]
rs2238220	0.90[CEU][hapmap]
rs2238223	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2238224	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2238228	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238229	0.90[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238230	0.90[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238231	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238232	0.90[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2238233	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238234	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238235	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238236	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238237	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238240	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2239253	0.90[CEU][hapmap]
rs2239254	0.90[CEU][hapmap]
rs2239256	0.90[CEU][hapmap]
rs2239262	0.90[CEU][hapmap];0.93[AFR][1000 genomes]
rs2283394	0.90[CEU][hapmap]
rs2283395	0.90[CEU][hapmap]
rs2283399	0.90[CEU][hapmap];0.93[AFR][1000 genomes]
rs2283400	0.93[AFR][1000 genomes]
rs34122902	0.93[AFR][1000 genomes]
rs34905590	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35133217	0.86[AFR][1000 genomes]
rs35367207	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35413081	0.93[AFR][1000 genomes]
rs35953744	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4899429	0.90[CEU][hapmap]
rs4903000	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4903005	0.90[CEU][hapmap];0.81[AFR][1000 genomes]
rs56263585	0.93[AFR][1000 genomes]
rs66823874	0.93[AFR][1000 genomes]
rs7149780	1.00[YRI][hapmap]
rs7153007	1.00[YRI][hapmap]
rs7153171	1.00[YRI][hapmap]
rs7156265	0.90[CEU][hapmap]
rs7156404	0.86[CHB][hapmap]
rs72721816	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8003628	1.00[YRI][hapmap]
rs847251	0.85[CHB][hapmap]
rs847257	0.86[CHB][hapmap]
rs847260	0.85[CHB][hapmap]

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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72653600-72683000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:72672200-72679400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72674800-72675400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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