Variant report

Variant	rs12680152
Chromosome Location	chr8:20262400-20262401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1016646	0.90[EUR][1000 genomes]
rs10503679	0.85[EUR][1000 genomes]
rs12678670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092302	0.98[AFR][1000 genomes]
rs17092305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17412582	0.85[EUR][1000 genomes]
rs17412623	0.85[EUR][1000 genomes]
rs17412734	0.90[EUR][1000 genomes]
rs17412740	0.90[EUR][1000 genomes]
rs17412929	0.90[EUR][1000 genomes]
rs17490805	0.85[EUR][1000 genomes]
rs17490847	0.89[EUR][1000 genomes]
rs17490895	0.85[EUR][1000 genomes]
rs17491153	0.90[EUR][1000 genomes]
rs2086886	0.85[EUR][1000 genomes]
rs35673104	0.90[EUR][1000 genomes]
rs4601325	0.85[EUR][1000 genomes]
rs4921708	0.90[EUR][1000 genomes]
rs4921711	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4921713	0.90[EUR][1000 genomes]
rs4922161	0.85[EUR][1000 genomes]
rs4922175	0.85[EUR][1000 genomes]
rs4922177	0.87[EUR][1000 genomes]
rs4922178	0.90[EUR][1000 genomes]
rs4922179	0.90[EUR][1000 genomes]
rs4922180	0.90[EUR][1000 genomes]
rs4922182	0.90[EUR][1000 genomes]
rs4922183	0.87[EUR][1000 genomes]
rs4922187	0.87[EUR][1000 genomes]
rs4922189	0.90[EUR][1000 genomes]
rs55700547	0.90[EUR][1000 genomes]
rs55724720	0.90[EUR][1000 genomes]
rs55968150	0.87[EUR][1000 genomes]
rs56157706	0.90[EUR][1000 genomes]
rs56171374	0.90[EUR][1000 genomes]
rs7011182	0.85[EUR][1000 genomes]
rs985577	0.85[EUR][1000 genomes]
rs985578	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1799175	chr8:20258303-20270849	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20261000-20263600	Enhancers	Fetal Kidney	kidney
2	chr8:20261600-20263000	Weak transcription	Spleen	Spleen
3	chr8:20262000-20263000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:20262200-20262600	Weak transcription	Fetal Lung	lung
5	chr8:20262200-20263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:20262200-20264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:20262400-20263400	Enhancers	Fetal Brain Male	brain
8	chr8:20262400-20263800	Enhancers	Cortex derived primary cultured neurospheres	brain

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