Variant report

Variant	rs532275471
Chromosome Location	chr21:39847082-39847083
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39838779..39841665-chr21:39845089..39847967,2	MCF-7	breast:
2	chr21:39844325..39848351-chr21:39848491..39850801,3	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39843400-39855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
4	chr21:39844200-39847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:39844200-39847200	Weak transcription	NHEK	skin
6	chr21:39844400-39847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:39844800-39847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:39845000-39847400	Weak transcription	Left Ventricle	heart
9	chr21:39845000-39848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:39845000-39849000	Weak transcription	Right Atrium	heart
11	chr21:39845200-39848000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr21:39845200-39848000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr21:39845800-39847400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr21:39845800-39848200	Enhancers	Fetal Thymus	thymus
15	chr21:39846000-39847800	Enhancers	HMEC	breast
16	chr21:39846200-39847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:39846200-39847800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:39846200-39848000	Enhancers	Spleen	Spleen
19	chr21:39846400-39847400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:39846400-39847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:39846400-39847400	Weak transcription	Aorta	Aorta
22	chr21:39846400-39847600	Weak transcription	Fetal Heart	heart
23	chr21:39846400-39847800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr21:39846400-39849000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:39846400-39855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:39846400-39855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:39846600-39847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr21:39846600-39847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:39846600-39847600	Enhancers	HUVEC	blood vessel
30	chr21:39846600-39849400	Weak transcription	Osteobl	bone
31	chr21:39846800-39847600	Enhancers	Adipose Nuclei	Adipose
32	chr21:39846800-39851400	Enhancers	Thymus	Thymus
33	chr21:39847000-39847200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
34	chr21:39847000-39847400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr21:39847000-39847400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:39847000-39847400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr21:39847000-39847800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:39847000-39847800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:39847000-39848200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr21:39847000-39848800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr21:39847000-39849600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr21:39847000-39850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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