Variant report

Variant	rs456574
Chromosome Location	chr21:40228202-40228203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40227190..40230655-chr21:40232406..40235410,3	K562	blood:
2	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:
3	chr21:40227300..40229882-chr21:40259597..40261140,2	MCF-7	breast:
4	chr21:40193849..40196646-chr21:40227112..40228777,2	K562	blood:
5	chr21:40227171..40228878-chr21:40230837..40233170,2	K562	blood:
6	chr21:40225549..40227156-chr21:40227645..40229389,2	K562	blood:

Variant related genes	Relation type
ENSG00000229925	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1009123	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11700716	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13047489	0.90[EUR][1000 genomes]
rs13047716	0.90[EUR][1000 genomes]
rs13048664	0.90[EUR][1000 genomes]
rs1534827	0.91[EUR][1000 genomes]
rs1882734	0.93[EUR][1000 genomes]
rs1893203	0.87[EUR][1000 genomes]
rs1893204	0.87[EUR][1000 genomes]
rs2015748	0.90[EUR][1000 genomes]
rs2836697	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2836700	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836703	0.91[EUR][1000 genomes]
rs455328	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs464366	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs464476	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs468057	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55938987	0.87[EUR][1000 genomes]
rs7276433	0.87[EUR][1000 genomes]
rs7281107	0.87[EUR][1000 genomes]
rs7281192	0.87[EUR][1000 genomes]
rs7281242	0.87[EUR][1000 genomes]
rs7281259	0.87[EUR][1000 genomes]
rs7281698	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs877372	0.89[EUR][1000 genomes]
rs909103	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
3	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart
5	chr21:40225400-40228600	Weak transcription	Psoas Muscle	Psoas
6	chr21:40225800-40228800	Weak transcription	HepG2	liver
7	chr21:40225800-40234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40226000-40232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40226000-40233600	Weak transcription	Spleen	Spleen
10	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:40226200-40228400	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:40226200-40228400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:40226200-40228400	Weak transcription	K562	blood
14	chr21:40226200-40229200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:40226200-40229200	Weak transcription	Thymus	Thymus
16	chr21:40226200-40229200	Weak transcription	NH-A	brain
17	chr21:40226200-40232800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:40226400-40228600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:40226400-40229000	Weak transcription	Dnd41	blood
20	chr21:40226400-40229800	Weak transcription	HUVEC	blood vessel
21	chr21:40226400-40230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:40226400-40231800	Weak transcription	NHEK	skin
23	chr21:40226600-40228800	Weak transcription	Hela-S3	cervix
24	chr21:40228200-40230400	Enhancers	Fetal Heart	heart
25	chr21:40228200-40231000	Enhancers	Fetal Muscle Trunk	muscle

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