Variant report

Variant	rs12464863
Chromosome Location	chr2:171652401-171652402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171637822..171639783-chr2:171650813..171652937,2	K562	blood:

Variant related genes	Relation type
ENSG00000222509	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10168078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1065651	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930440	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11675773	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12463871	0.90[ASN][1000 genomes]
rs12472397	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs12692960	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1362488	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1420378	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1420379	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1420380	0.87[ASN][1000 genomes]
rs1420381	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs17694562	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17694708	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17751035	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17751072	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17751234	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1894920	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978340	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs1990653	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2111000	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2216134	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287110	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356234	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2883888	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34137349	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34436957	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35127716	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35872782	0.93[ASN][1000 genomes]
rs3791878	0.81[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs4411661	0.89[EUR][1000 genomes]
rs4667657	0.87[ASN][1000 genomes]
rs4668308	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4668315	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668316	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55693618	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55799517	0.87[ASN][1000 genomes]
rs55804482	0.87[ASN][1000 genomes]
rs55923006	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56330225	0.87[ASN][1000 genomes]
rs56364811	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56989102	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58919807	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168365	0.83[ASN][1000 genomes]
rs62168366	0.83[ASN][1000 genomes]
rs62168367	0.85[ASN][1000 genomes]
rs62168369	0.87[ASN][1000 genomes]
rs62168370	0.87[ASN][1000 genomes]
rs62168371	0.87[ASN][1000 genomes]
rs62168373	0.90[ASN][1000 genomes]
rs62168376	0.90[ASN][1000 genomes]
rs62168396	0.94[ASN][1000 genomes]
rs62168397	0.94[ASN][1000 genomes]
rs62168399	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168400	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168401	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168405	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168446	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168448	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712113	0.87[ASN][1000 genomes]
rs6742220	0.87[ASN][1000 genomes]
rs6755814	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6759584	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72887356	0.87[ASN][1000 genomes]
rs72887361	0.90[ASN][1000 genomes]
rs72887372	0.94[ASN][1000 genomes]
rs7568115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600585	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171629600-171658800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:171642400-171669000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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