Variant report

Variant	rs72613652
Chromosome Location	chr21:46484612-46484613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2838769	0.85[AMR][1000 genomes]
rs7281332	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72613652	SSR4P1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
3	chr21:46483600-46485000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr21:46483800-46485200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:46484000-46484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46484000-46484800	Enhancers	Fetal Muscle Trunk	muscle
7	chr21:46484000-46485000	Enhancers	Left Ventricle	heart
8	chr21:46484000-46485200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr21:46484000-46485400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr21:46484000-46485400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:46484000-46485400	Enhancers	Fetal Muscle Leg	muscle
12	chr21:46484000-46485400	Enhancers	K562	blood
13	chr21:46484000-46485600	Enhancers	Aorta	Aorta
14	chr21:46484200-46484800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:46484200-46484800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr21:46484200-46485000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:46484200-46485000	Enhancers	Adipose Nuclei	Adipose
18	chr21:46484200-46485000	Enhancers	HSMMtube	muscle
19	chr21:46484200-46485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr21:46484200-46485200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:46484200-46485400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:46484400-46484800	Enhancers	Fetal Heart	heart
23	chr21:46484400-46485000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr21:46484400-46485000	Enhancers	HSMM	muscle
25	chr21:46484400-46485200	Enhancers	NH-A	brain
26	chr21:46484400-46485400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:46484600-46484800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:46484600-46485000	Weak transcription	Placenta	Placenta
29	chr21:46484600-46485600	Enhancers	Right Ventricle	heart
30	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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