Variant report

Variant	rs73893237
Chromosome Location	chr21:17552659-17552660
allele	A/T
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	KAP1	chr21:17551961-17553144	HEK293	kidney:	n/a	n/a
2	EP300	chr21:17551850-17552686	A549	lung:	n/a	n/a

Variant related genes	Relation type
LINC00478	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55765324	1.00[AFR][1000 genomes]
rs58558420	1.00[AMR][1000 genomes]
rs58837053	1.00[AFR][1000 genomes]
rs59959559	1.00[AMR][1000 genomes]
rs73893154	1.00[AMR][1000 genomes]
rs73893214	1.00[AFR][1000 genomes]
rs73893215	1.00[AMR][1000 genomes]
rs73893220	1.00[AMR][1000 genomes]
rs73893221	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17527200-17553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17543400-17553000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17548800-17556200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:17549800-17553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:17550800-17553800	Enhancers	Hela-S3	cervix
6	chr21:17551800-17553600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:17551800-17554600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr21:17552000-17552800	Enhancers	Brain Hippocampus Middle	brain
9	chr21:17552000-17553000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:17552000-17553200	Enhancers	Dnd41	blood
11	chr21:17552000-17553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:17552000-17553600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr21:17552000-17554600	Enhancers	HUVEC	blood vessel
14	chr21:17552200-17552800	Enhancers	Fetal Intestine Large	intestine
15	chr21:17552200-17553000	Enhancers	Ovary	ovary
16	chr21:17552200-17553200	Enhancers	Primary T cells from cord blood	blood
17	chr21:17552200-17553200	Enhancers	Fetal Thymus	thymus
18	chr21:17552200-17553400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr21:17552200-17553400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr21:17552200-17553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr21:17552200-17553600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr21:17552200-17553600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr21:17552200-17553600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:17552200-17553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:17552200-17553800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr21:17552400-17552800	Active TSS	A549	lung
27	chr21:17552400-17553400	Enhancers	Fetal Stomach	stomach
28	chr21:17552400-17553600	Enhancers	Brain Angular Gyrus	brain
29	chr21:17552400-17553800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr21:17552600-17552800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr21:17552600-17552800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr21:17552600-17552800	Enhancers	Right Atrium	heart
33	chr21:17552600-17553200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:17552600-17553200	Enhancers	Brain Anterior Caudate	brain
35	chr21:17552600-17553400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr21:17552600-17554000	Enhancers	NH-A	brain

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