Variant report

Variant	rs73232736
Chromosome Location	chr21:47144751-47144752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47143964..47146015-chr21:47147683..47149527,2	K562	blood:
2	chr1:28833935..28836290-chr21:47144062..47146610,2	K562	blood:

Variant related genes	Relation type
ENSG00000200087	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11089019	0.95[EUR][1000 genomes]
rs2838979	0.97[EUR][1000 genomes]
rs4819136	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55654342	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73232733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133338	0.96[EUR][1000 genomes]
rs9976490	0.86[EUR][1000 genomes]
rs9977594	0.97[EUR][1000 genomes]
rs9982063	0.88[EUR][1000 genomes]
rs9982174	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47131800-47146200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr21:47135600-47165000	Weak transcription	Primary T cells from cord blood	blood
3	chr21:47141000-47154400	Weak transcription	Thymus	Thymus
4	chr21:47143400-47145200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:47143600-47146200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:47143600-47146400	Enhancers	Fetal Muscle Leg	muscle
7	chr21:47143800-47145000	Weak transcription	Spleen	Spleen
8	chr21:47143800-47145600	Enhancers	Fetal Brain Female	brain
9	chr21:47144000-47145800	Enhancers	Fetal Brain Male	brain
10	chr21:47144000-47146000	Weak transcription	Fetal Thymus	thymus
11	chr21:47144200-47144800	Enhancers	Adipose Nuclei	Adipose
12	chr21:47144200-47144800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr21:47144200-47144800	Flanking Active TSS	HSMMtube	muscle
14	chr21:47144200-47145000	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr21:47144200-47145000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr21:47144200-47145000	Enhancers	Fetal Heart	heart
17	chr21:47144200-47145200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:47144200-47145200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr21:47144200-47145200	Enhancers	Psoas Muscle	Psoas
20	chr21:47144200-47145200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr21:47144400-47144800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr21:47144400-47144800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr21:47144400-47144800	Active TSS	Brain Substantia Nigra	brain
25	chr21:47144400-47145200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr21:47144400-47145200	Enhancers	Right Ventricle	heart
27	chr21:47144400-47145400	Enhancers	Brain Angular Gyrus	brain
28	chr21:47144400-47145600	Enhancers	HSMM	muscle
29	chr21:47144600-47145200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:47144600-47145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:47144600-47146400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:47144600-47157600	Weak transcription	Right Atrium	heart

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