Variant report

Variant	rs80123071
Chromosome Location	chr21:15588117-15588118
allele	C/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	SP1	chr21:15588106-15588627	H1-hESC	embryonic stem cell:	n/a	chr21:15588367-15588377 chr21:15588366-15588378 chr21:15588367-15588377 chr21:15588366-15588378
2	MAZ	chr21:15588104-15588691	IMR90	lung:	n/a	n/a
3	HA-E2F1	chr21:15588094-15589260	MCF-7	breast:	n/a	chr21:15588435-15588445
4	POLR2A	chr21:15588111-15589792	SK-N-MC	brain:	n/a	n/a
5	CHD2	chr21:15588115-15588117	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RBM11	TF binding region
LIPI	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv913402	chr21:15545350-15606128	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1056588	chr21:15583231-15615520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15587800-15588200	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr21:15587800-15588200	Active TSS	Right Ventricle	heart
3	chr21:15587800-15588800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:15587800-15589600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr21:15588000-15588200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:15588000-15588200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr21:15588000-15588200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr21:15588000-15588200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:15588000-15588200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:15588000-15588200	Enhancers	GM12878-XiMat	blood
11	chr21:15588000-15588400	Enhancers	Primary B cells from peripheral blood	blood
12	chr21:15588000-15588400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr21:15588000-15588400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr21:15588000-15588400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr21:15588000-15588400	Active TSS	Brain Germinal Matrix	brain
16	chr21:15588000-15588600	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr21:15588000-15588800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:15588000-15588800	Active TSS	Primary B cells from cord blood	blood
19	chr21:15588000-15588800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:15588000-15588800	Active TSS	Fetal Brain Female	brain
21	chr21:15588000-15588800	Active TSS	Thymus	Thymus
22	chr21:15588000-15589000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr21:15588000-15589000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr21:15588000-15589000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:15588000-15589000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr21:15588000-15589000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:15588000-15589000	Active TSS	Ovary	ovary
28	chr21:15588000-15589200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:15588000-15589200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr21:15588000-15589200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:15588000-15589200	Bivalent/Poised TSS	A549	lung
32	chr21:15588000-15589400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr21:15588000-15589400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:15588000-15589400	Active TSS	Brain Angular Gyrus	brain
35	chr21:15588000-15589400	Active TSS	Brain Anterior Caudate	brain
36	chr21:15588000-15589600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr21:15588000-15589600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr21:15588000-15589600	Active TSS	Brain Cingulate Gyrus	brain
39	chr21:15588000-15589600	Active TSS	Brain Hippocampus Middle	brain
40	chr21:15588000-15589600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr21:15588000-15589600	Active TSS	Brain Substantia Nigra	brain
42	chr21:15588000-15589600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr21:15588000-15589800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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