Variant report

Variant	rs73903672
Chromosome Location	chr21:40302009-40302010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40300443..40302054-chr21:40310080..40312715,2	K562	blood:

Variant related genes	Relation type
ENSG00000205622	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56267686	1.00[AFR][1000 genomes]
rs73903619	1.00[AFR][1000 genomes]
rs73903623	1.00[AFR][1000 genomes]
rs73903641	1.00[AFR][1000 genomes]
rs73903642	1.00[AFR][1000 genomes]
rs73903645	1.00[AFR][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40287000-40305400	Weak transcription	Gastric	stomach
2	chr21:40297800-40302400	Weak transcription	Small Intestine	intestine
3	chr21:40297800-40302600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr21:40298000-40303600	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:40298200-40302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:40298200-40305200	Weak transcription	Stomach Mucosa	stomach
7	chr21:40298400-40302400	Weak transcription	Right Atrium	heart
8	chr21:40298400-40302600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:40298400-40302800	Weak transcription	Hela-S3	cervix
10	chr21:40298400-40303800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr21:40298400-40305000	Weak transcription	Lung	lung
12	chr21:40298400-40305400	Weak transcription	Spleen	Spleen
13	chr21:40298600-40302600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:40298800-40302200	Weak transcription	Adipose Nuclei	Adipose
15	chr21:40298800-40302400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:40298800-40302400	Weak transcription	NHLF	lung
17	chr21:40298800-40305000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:40298800-40308000	Weak transcription	Fetal Heart	heart
19	chr21:40299000-40302400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:40299000-40302600	Weak transcription	NHDF-Ad	bronchial
21	chr21:40300200-40308800	Weak transcription	Thymus	Thymus
22	chr21:40300800-40302200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:40300800-40304200	Enhancers	Fetal Lung	lung
24	chr21:40301000-40306000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr21:40301800-40302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:40301800-40302600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:40302000-40302200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:40302000-40304200	Enhancers	Placenta	Placenta
29	chr21:40302000-40304200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr21:40302000-40304400	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:40302000-40304400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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