Variant report

Variant	rs371830003
Chromosome Location	chr21:15442409-15442410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:15442402-15442631	MCF-7	breast:	n/a	n/a
2	POLR2A	chr21:15442360-15442497	MCF-7	breast:	n/a	n/a
3	EGR1	chr21:15442321-15442758	MCF-7	breast:	n/a	chr21:15442541-15442556
4	MYC	chr21:15442310-15442612	MCF-7	breast:	n/a	n/a
5	CTCF	chr21:15442387-15442645	MCF-7	breast:	n/a	n/a
6	MAX	chr21:15442222-15442701	MCF-7	breast:	n/a	n/a
7	CTCF	chr21:15442396-15442642	MCF-7	breast:	n/a	n/a
8	CTCF	chr21:15442409-15442619	MCF-7	breast:	n/a	n/a
9	CTCF	chr21:15442380-15442530	BE2_C	brain:	n/a	n/a
10	POLR2A	chr21:15442213-15442658	MCF-7	breast:	n/a	n/a
11	MYC	chr21:15442327-15442638	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
RNA5SP488	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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	25 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
6	chr21:15437000-15442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:15437000-15443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:15437000-15448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:15442000-15442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:15442000-15442600	Enhancers	Gastric	stomach
12	chr21:15442000-15444200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:15442000-15448000	ZNF genes & repeats	Fetal Brain Female	brain
14	chr21:15442000-15448200	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr21:15442200-15442600	Enhancers	Fetal Heart	heart
16	chr21:15442200-15442600	Enhancers	Pancreas	Pancrea
17	chr21:15442200-15442800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:15442200-15444000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr21:15442200-15445200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:15442400-15442600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:15442400-15442800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr21:15442400-15443000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:15442400-15443800	ZNF genes & repeats	Thymus	Thymus
24	chr21:15442400-15444600	ZNF genes & repeats	Esophagus	oesophagus
25	chr21:15442400-15445800	Strong transcription	Dnd41	blood
26	chr21:15442400-15446200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:15442400-15447800	ZNF genes & repeats	Fetal Stomach	stomach
28	chr21:15442400-15448000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin

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