Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40324421..40326508-chr21:40337997..40339569,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10854393	0.98[ASN][1000 genomes]
rs10854394	0.98[ASN][1000 genomes]
rs10854395	0.98[ASN][1000 genomes]
rs11088460	0.83[ASN][1000 genomes]
rs11088461	0.84[ASN][1000 genomes]
rs12165276	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836793	0.98[ASN][1000 genomes]
rs2836794	0.98[ASN][1000 genomes]
rs60997307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278217	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283257	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8126897	0.84[ASN][1000 genomes]
rs8129750	0.98[ASN][1000 genomes]
rs8133475	0.98[ASN][1000 genomes]
rs881558	0.83[ASN][1000 genomes]
rs9980120	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9980681	0.98[ASN][1000 genomes]
rs9981682	0.98[ASN][1000 genomes]
rs9982548	0.88[ASN][1000 genomes]
rs9982800	0.98[ASN][1000 genomes]
rs9983903	0.98[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40310800-40329600	Weak transcription	Thymus	Thymus
2	chr21:40318000-40331200	Weak transcription	Aorta	Aorta
3	chr21:40318800-40326400	Weak transcription	Left Ventricle	heart
4	chr21:40318800-40326600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:40319800-40326400	Weak transcription	Spleen	Spleen
6	chr21:40321000-40327400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:40322400-40326000	Weak transcription	Stomach Mucosa	stomach
8	chr21:40323000-40326800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:40323400-40326000	Weak transcription	Fetal Lung	lung
10	chr21:40323400-40328800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr21:40323600-40326400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr21:40323600-40326600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:40323800-40326200	Weak transcription	HepG2	liver
14	chr21:40324000-40327800	Weak transcription	Small Intestine	intestine
15	chr21:40324800-40326400	Weak transcription	Fetal Intestine Small	intestine
16	chr21:40325000-40326200	Weak transcription	Fetal Intestine Large	intestine
17	chr21:40325200-40326400	Weak transcription	Rectal Mucosa Donor 31	rectum

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