Variant report

Variant	rs12883593
Chromosome Location	chr14:72684090-72684091
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1012220	0.82[CEU][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10132818	0.96[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10136881	0.82[EUR][1000 genomes]
rs11848300	0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs12148024	0.82[CEU][hapmap]
rs12894979	0.85[CEU][hapmap]
rs1402056	0.81[CEU][hapmap]
rs1402058	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs1402061	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs1520330	0.83[EUR][1000 genomes]
rs17769097	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1949560	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1949561	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2108467	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2190627	0.82[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238227	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2238243	0.84[CEU][hapmap]
rs2238244	0.88[CEU][hapmap]
rs2283406	0.82[EUR][1000 genomes]
rs2283408	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs2283409	0.81[EUR][1000 genomes]
rs2332806	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs28678452	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903003	0.81[CEU][hapmap]
rs7141299	0.93[CEU][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157673	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs763507	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs8007566	0.81[CHB][hapmap]
rs977340	0.96[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes];0.90[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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72680600-72686600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72683200-72686400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72683800-72684200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr14:72683800-72684200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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