Variant report

Variant	rs7977483
Chromosome Location	chr12:21445383-21445384
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	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11045959	1.00[ASW][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap]
rs11829484	0.85[AMR][1000 genomes]
rs11830367	0.83[AMR][1000 genomes]
rs11830939	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes]
rs11830971	0.87[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes]
rs11830993	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831262	0.83[AMR][1000 genomes]
rs11832394	0.87[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes]
rs11832851	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs11833627	1.00[AMR][1000 genomes]
rs11833771	0.90[LWK][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap]
rs11835045	1.00[MEX][hapmap]
rs11836396	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs11836945	0.90[LWK][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap]
rs11838023	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs16923608	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs16923663	1.00[MEX][hapmap]
rs2199683	0.90[YRI][hapmap];0.85[AMR][1000 genomes]
rs2199688	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs57503786	0.85[AMR][1000 genomes]
rs60594228	0.94[AFR][1000 genomes]
rs61552073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312628	0.85[AMR][1000 genomes]
rs73237241	0.85[AMR][1000 genomes]
rs73248969	1.00[AMR][1000 genomes]
rs73250847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250866	0.86[AFR][1000 genomes]
rs7486475	0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898883	chr12:21294293-21450917	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv898886	chr12:21354494-21450250	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv898891	chr12:21422253-21453355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv898892	chr12:21428371-21453355	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv898893	chr12:21444883-21453355	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:21422600-21447200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:21426600-21460400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:21440600-21448200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:21441600-21446800	Weak transcription	Brain Substantia Nigra	brain

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