Variant report

Variant	rs12144937
Chromosome Location	chr1:211089984-211089985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211068269..211070405-chr1:211089672..211092278,2	K562	blood:
2	chr1:211070734..211072894-chr1:211089401..211091123,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10158086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119634	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11119647	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11119659	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11119663	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1160574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1160575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12117040	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12118119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12122248	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122974	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12124842	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12126553	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12126937	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12128894	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12131213	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12131362	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12133961	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12133981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12136201	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12138903	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12139813	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12139930	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140731	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12142251	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12143882	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145265	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12564720	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12566441	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12566456	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1501552	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17017105	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4146993	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61577575	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72468065	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9645356	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873154	chr1:211057697-211117197	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211082800-211091000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:211083000-211091000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:211083000-211091000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:211083000-211091200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:211085800-211091000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:211087600-211091400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:211088400-211091000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:211088600-211090000	Enhancers	Pancreas	Pancrea
9	chr1:211089000-211090000	Enhancers	Liver	Liver
10	chr1:211089200-211098800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:211089400-211090200	Enhancers	HSMM	muscle
12	chr1:211089600-211090000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:211089600-211091200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:211089600-211091600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:211089800-211091000	Weak transcription	HSMMtube	muscle

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