Variant report

Variant	rs13048571
Chromosome Location	chr21:15474905-15474906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13046587	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13047507	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13048221	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13049181	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13050018	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13050118	0.90[EUR][1000 genomes]
rs13052761	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13052850	0.81[AMR][1000 genomes]
rs34506869	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35982572	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7276032	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7277094	0.90[EUR][1000 genomes]
rs73151552	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][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	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1831533	chr21:15442382-15477876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
8	esv1827667	chr21:15442582-15521121	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1830377	chr21:15446911-15477676	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
10	nsv962667	chr21:15468206-15478776	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
4	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
5	chr21:15465800-15475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:15467600-15477000	Strong transcription	Dnd41	blood
7	chr21:15468000-15475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:15468000-15477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:15468200-15475200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:15468400-15475200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr21:15468600-15476600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:15470400-15487200	Weak transcription	Ovary	ovary
13	chr21:15470600-15475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:15470600-15476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:15470600-15480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:15470800-15475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:15470800-15475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr21:15470800-15475400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:15470800-15475800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:15470800-15476000	Weak transcription	Adipose Nuclei	Adipose
21	chr21:15470800-15476600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:15470800-15476800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr21:15470800-15477000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:15470800-15477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:15470800-15483600	Weak transcription	Fetal Lung	lung
26	chr21:15470800-15484800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr21:15470800-15486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:15471000-15484200	Weak transcription	Fetal Brain Female	brain
29	chr21:15474000-15489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:15474600-15475800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr21:15474600-15489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr21:15474800-15475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:15474800-15475000	ZNF genes & repeats	Fetal Stomach	stomach
34	chr21:15474800-15476800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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