Variant report

Variant	rs12682993
Chromosome Location	chr9:8347802-8347803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10511493	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10758952	0.85[EUR][1000 genomes]
rs10815822	0.93[EUR][1000 genomes]
rs10976953	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10976960	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10976962	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11521513	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11521514	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11524180	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12551994	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12552493	0.80[CHB][hapmap]
rs12554953	0.86[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs12555185	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12555585	0.89[CHB][hapmap]
rs12682697	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12684196	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12684395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12684864	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12685966	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16927547	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs20514	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs2173711	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3739578	1.00[CEU][hapmap]
rs3739579	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3780336	0.93[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3847288	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847291	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4008216	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4742486	0.90[CEU][hapmap];0.94[CHB][hapmap]
rs60965360	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7042854	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72710309	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7848455	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7848705	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7848818	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7854665	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7873084	0.93[CEU][hapmap]

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	nsv892225	chr9:8345072-8379313	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8330000-8348600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:8330200-8364200	Weak transcription	Brain Anterior Caudate	brain
3	chr9:8338800-8348600	Weak transcription	Brain Angular Gyrus	brain
4	chr9:8339200-8348000	Weak transcription	Brain Substantia Nigra	brain
5	chr9:8339600-8364400	Weak transcription	Brain Germinal Matrix	brain
6	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:8340200-8348000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:8340200-8348600	Weak transcription	Ovary	ovary
9	chr9:8340200-8366400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:8340400-8364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:8340800-8364400	Weak transcription	Fetal Brain Female	brain
12	chr9:8341800-8372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:8344400-8349200	Weak transcription	Fetal Lung	lung
14	chr9:8347600-8348000	Weak transcription	Brain Hippocampus Middle	brain

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