Variant report

Variant	rs12823127
Chromosome Location	chr12:30125789-30125790
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10506051	0.90[AFR][1000 genomes]
rs12579215	0.90[AFR][1000 genomes]
rs12809094	0.86[EUR][1000 genomes]
rs12809677	0.86[EUR][1000 genomes]
rs12809882	0.86[EUR][1000 genomes]
rs12810035	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12810169	0.83[AFR][1000 genomes]
rs12810624	0.90[AFR][1000 genomes]
rs12811534	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12812656	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12812911	0.86[EUR][1000 genomes]
rs12814936	0.81[AFR][1000 genomes]
rs12815048	0.90[AFR][1000 genomes]
rs12816189	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12816528	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12816561	0.86[EUR][1000 genomes]
rs12816569	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12817644	0.84[EUR][1000 genomes]
rs12817837	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12820126	0.81[AFR][1000 genomes]
rs12820796	0.90[AFR][1000 genomes]
rs12821646	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12822342	0.86[EUR][1000 genomes]
rs12823408	0.81[AFR][1000 genomes]
rs12823811	0.81[AFR][1000 genomes]
rs12831913	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16935245	0.90[AFR][1000 genomes]
rs16935247	0.90[AFR][1000 genomes]
rs16935257	0.81[AFR][1000 genomes]
rs1872212	0.86[EUR][1000 genomes]
rs1909162	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1909163	0.86[EUR][1000 genomes]
rs1909164	0.86[EUR][1000 genomes]
rs1909165	0.86[EUR][1000 genomes]
rs1909168	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35348803	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35377402	0.86[EUR][1000 genomes]
rs36124845	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4306352	0.86[EUR][1000 genomes]
rs6487869	0.84[EUR][1000 genomes]
rs67137600	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7306835	0.90[AFR][1000 genomes]
rs7954953	0.86[EUR][1000 genomes]
rs7955000	0.85[EUR][1000 genomes]
rs7955127	0.86[EUR][1000 genomes]
rs7963484	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7978565	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1042652	chr12:30094830-30133320	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30122400-30126600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:30123000-30125800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:30124400-30126200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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