Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118654131..118656982-chr3:118667151..118670304,3	K562	blood:
2	chr3:118655482..118657417-chr3:118667049..118669730,2	K562	blood:

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10212391	0.81[AFR][1000 genomes]
rs16829165	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160054	0.85[YRI][hapmap];0.91[AFR][1000 genomes]
rs41523948	0.81[ASW][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.81[AFR][1000 genomes]
rs4611809	0.88[AFR][1000 genomes]
rs6785161	0.83[AFR][1000 genomes]
rs6795523	0.81[ASW][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.82[AFR][1000 genomes]
rs72966889	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72968610	0.89[AFR][1000 genomes]
rs7629089	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7633584	0.95[LWK][hapmap];0.90[MKK][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes]
rs7644623	0.85[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9817943	0.89[AFR][1000 genomes]
rs9847272	0.80[LWK][hapmap]
rs9854240	0.81[AFR][1000 genomes]
rs9861721	0.81[ASW][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9867214	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs9874337	0.91[AFR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
2	chr3:118645200-118661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118645800-118661600	Weak transcription	Left Ventricle	heart
4	chr3:118647600-118661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:118651800-118661200	Weak transcription	Right Atrium	heart
6	chr3:118653000-118660600	Weak transcription	Brain Angular Gyrus	brain
7	chr3:118653800-118661200	Weak transcription	Psoas Muscle	Psoas
8	chr3:118655000-118655800	Enhancers	Brain Hippocampus Middle	brain
9	chr3:118655400-118655800	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:118655400-118656000	Enhancers	Adipose Nuclei	Adipose
11	chr3:118655400-118656000	Enhancers	Brain Substantia Nigra	brain
12	chr3:118655400-118656000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:118655400-118656200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:118655400-118657800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:118655600-118655800	Enhancers	A549	lung
16	chr3:118655600-118656000	Enhancers	Brain Anterior Caudate	brain
17	chr3:118655600-118656000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:118655600-118656000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:118655600-118656400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:118655600-118657200	Enhancers	K562	blood

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