Variant report

Variant	rs12283717
Chromosome Location	chr11:75355213-75355214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75354749..75357015-chr11:75358694..75360751,2	K562	blood:
2	chr11:75352226..75354226-chr11:75354306..75356948,2	K562	blood:
3	chr11:75340982..75343512-chr11:75355129..75357190,2	K562	blood:

Variant related genes	Relation type
ENSG00000255280	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466734	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236470	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236471	0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236474	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236479	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271835	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275088	0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275991	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278470	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283587	1.00[AMR][1000 genomes]
rs12283710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285790	0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291785	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56397997	0.84[AFR][1000 genomes]
rs57234319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58567299	1.00[AMR][1000 genomes]
rs61343133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112425	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488441	1.00[AMR][1000 genomes]
rs73488462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488499	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7482924	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
2	chr11:75351600-75356200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:75351600-75356400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:75351600-75362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:75351600-75362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:75351600-75366600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:75352600-75355400	Enhancers	Fetal Brain Female	brain
8	chr11:75353400-75356000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:75353800-75366400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:75354400-75355400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:75355000-75356000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:75355000-75362600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:75355000-75366200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:75355200-75356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:75355200-75366400	Weak transcription	Fetal Brain Male	brain

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