Variant report

Variant	rs12684864
Chromosome Location	chr9:8322349-8322350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10758952	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815819	0.88[ASN][1000 genomes]
rs10815822	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10976953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10976960	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10976962	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11521513	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11521514	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11524180	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12551994	0.83[EUR][1000 genomes]
rs12555185	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12555436	0.89[ASN][1000 genomes]
rs12682697	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12682993	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12684196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684395	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12685966	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16927547	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2173711	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3739579	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3780336	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3847288	0.83[EUR][1000 genomes]
rs3847291	0.83[EUR][1000 genomes]
rs4008212	0.83[EUR][1000 genomes]
rs4008216	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7042854	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72710309	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7848455	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7848705	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7848818	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7854665	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv892224	chr9:8263737-8338431	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8310800-8323000	Weak transcription	Brain Germinal Matrix	brain
2	chr9:8311200-8322600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8312200-8322600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8312200-8338200	Weak transcription	Brain Angular Gyrus	brain
5	chr9:8313800-8329400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:8315400-8323000	Weak transcription	Brain Anterior Caudate	brain
7	chr9:8316000-8329600	Weak transcription	Ovary	ovary
8	chr9:8318200-8329000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:8319000-8322400	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:8319000-8322800	Weak transcription	Fetal Brain Male	brain
11	chr9:8319200-8322400	Weak transcription	Brain Substantia Nigra	brain
12	chr9:8320200-8322600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:8320800-8323000	Weak transcription	Fetal Lung	lung
14	chr9:8321800-8322800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:8321800-8324200	ZNF genes & repeats	Fetal Brain Female	brain
16	chr9:8322000-8322800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:8322200-8322600	Enhancers	Stomach Mucosa	stomach
18	chr9:8322200-8324200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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