Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40313934..40316767-chr21:40319047..40321824,2	K562	blood:

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10854393	0.88[ASN][1000 genomes]
rs10854394	0.88[ASN][1000 genomes]
rs10854395	0.88[ASN][1000 genomes]
rs12165276	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836793	0.88[ASN][1000 genomes]
rs2836794	0.88[ASN][1000 genomes]
rs60997307	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129750	0.88[ASN][1000 genomes]
rs8131869	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133475	0.88[ASN][1000 genomes]
rs9980120	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9980681	0.88[ASN][1000 genomes]
rs9981682	0.88[ASN][1000 genomes]
rs9982548	0.81[ASN][1000 genomes]
rs9982800	0.88[ASN][1000 genomes]
rs9983903	0.88[ASN][1000 genomes]

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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 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	chr21:40310800-40329600	Weak transcription	Thymus	Thymus
2	chr21:40312800-40321600	Weak transcription	Stomach Mucosa	stomach
3	chr21:40317800-40324000	Enhancers	NHDF-Ad	bronchial
4	chr21:40318000-40322000	Weak transcription	Fetal Intestine Large	intestine
5	chr21:40318000-40331200	Weak transcription	Aorta	Aorta
6	chr21:40318400-40322600	Weak transcription	Fetal Lung	lung
7	chr21:40318800-40326400	Weak transcription	Left Ventricle	heart
8	chr21:40318800-40326600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:40319400-40322400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:40319400-40323400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:40319800-40323200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr21:40319800-40326400	Weak transcription	Spleen	Spleen
13	chr21:40320400-40322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:40320800-40322000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:40320800-40322400	Weak transcription	Osteobl	bone
16	chr21:40321000-40322000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr21:40321000-40322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:40321000-40327400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:40321200-40321600	Weak transcription	NHLF	lung
20	chr21:40321400-40322400	ZNF genes & repeats	Fetal Intestine Small	intestine

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