Variant report

Variant	rs455633
Chromosome Location	chr21:28170786-28170787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs190145	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229033	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229038	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs229080	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs456270	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs457864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs458546	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs459470	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs461307	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463800	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs464273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468245	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs469319	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs455633	MAP1B	trans	brain	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28168400-28171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
6	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
7	chr21:28168800-28171600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:28168800-28172400	Weak transcription	HSMMtube	muscle
9	chr21:28168800-28173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:28168800-28174000	Weak transcription	HSMM	muscle
11	chr21:28169000-28171600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:28169000-28171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:28169000-28171800	Weak transcription	Fetal Lung	lung
14	chr21:28169000-28171800	Weak transcription	NHLF	lung
15	chr21:28169000-28172200	Weak transcription	Osteobl	bone
16	chr21:28169000-28172400	Weak transcription	NHDF-Ad	bronchial
17	chr21:28169000-28172600	Enhancers	Ovary	ovary
18	chr21:28169200-28171800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr21:28169200-28171800	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:28169400-28171200	Weak transcription	Brain Substantia Nigra	brain
21	chr21:28169400-28172200	Weak transcription	Fetal Heart	heart
22	chr21:28169400-28173600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr21:28169600-28171200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:28169600-28171600	Weak transcription	Brain Hippocampus Middle	brain
25	chr21:28169600-28171800	Weak transcription	Fetal Stomach	stomach
26	chr21:28169600-28172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:28169600-28173200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:28170000-28171400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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