Variant report

Variant	rs461307
Chromosome Location	chr21:28173540-28173541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120730634..120731325-chr21:28173539..28174421,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs190145	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229033	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229038	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs229080	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs455633	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs456270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs457864	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs458546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs459470	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs463800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs464273	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs468245	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs469319	0.95[AFR][1000 genomes];0.90[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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
2	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
3	chr21:28168800-28173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:28168800-28174000	Weak transcription	HSMM	muscle
5	chr21:28169400-28173600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:28170800-28181000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:28171400-28174200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:28171600-28173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:28171600-28173800	Enhancers	Fetal Muscle Leg	muscle
10	chr21:28171800-28173800	Enhancers	Fetal Stomach	stomach
11	chr21:28171800-28174400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:28171800-28174400	Enhancers	Fetal Lung	lung
13	chr21:28172000-28173800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:28172400-28174000	Enhancers	HSMMtube	muscle
15	chr21:28172400-28174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:28172400-28175000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:28172600-28173800	Enhancers	Brain Hippocampus Middle	brain
18	chr21:28172800-28173800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr21:28172800-28174200	Enhancers	Brain Substantia Nigra	brain
20	chr21:28172800-28177200	Weak transcription	Placenta	Placenta
21	chr21:28173000-28177400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr21:28173200-28173600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:28173200-28173600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr21:28173200-28173600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr21:28173200-28173800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr21:28173200-28174200	Flanking Active TSS	Osteobl	bone
27	chr21:28173200-28174400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:28173200-28174600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:28173400-28173600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:28173400-28173800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr21:28173400-28173800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr21:28173400-28173800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr21:28173400-28173800	Flanking Active TSS	NHLF	lung
34	chr21:28173400-28174000	Enhancers	Brain Cingulate Gyrus	brain
35	chr21:28173400-28174000	Weak transcription	Colon Smooth Muscle	Colon
36	chr21:28173400-28174000	Active TSS	Ovary	ovary
37	chr21:28173400-28174200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:28173400-28174400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr21:28173400-28174400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:28173400-28174400	Enhancers	Rectal Smooth Muscle	rectum

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