Variant report

Variant	rs458748
Chromosome Location	chr21:40229342-40229343
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	chr21:40229025..40231300-chr21:40255922..40258531,2	K562	blood:
3	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:
4	chr21:40227300..40229882-chr21:40259597..40261140,2	MCF-7	breast:
5	chr21:40225549..40227156-chr21:40227645..40229389,2	K562	blood:
6	chr21:40176981..40179168-chr21:40228502..40230846,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229925	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2836714	0.81[ASN][1000 genomes]
rs2836731	0.91[JPT][hapmap]
rs2836739	0.91[JPT][hapmap]
rs2836741	0.90[JPT][hapmap]
rs455426	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456315	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs456508	0.90[JPT][hapmap]
rs458749	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458808	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs463032	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs464052	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs464074	0.87[ASN][1000 genomes]
rs465189	0.91[JPT][hapmap]
rs465214	0.90[JPT][hapmap]
rs465657	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4816602	0.81[ASN][1000 genomes]
rs7283582	0.91[JPT][hapmap]
rs9983650	0.91[JPT][hapmap]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40225800-40234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40226000-40232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:40226000-40233600	Weak transcription	Spleen	Spleen
4	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40226200-40232800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:40226400-40229800	Weak transcription	HUVEC	blood vessel
7	chr21:40226400-40230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:40226400-40231800	Weak transcription	NHEK	skin
9	chr21:40228200-40230400	Enhancers	Fetal Heart	heart
10	chr21:40228200-40231000	Enhancers	Fetal Muscle Trunk	muscle
11	chr21:40228400-40230400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:40228400-40231200	Enhancers	Fetal Muscle Leg	muscle
13	chr21:40228600-40229600	Enhancers	Psoas Muscle	Psoas
14	chr21:40228600-40230000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr21:40228800-40230200	Enhancers	Hela-S3	cervix
16	chr21:40229000-40229400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:40229000-40229400	Enhancers	Gastric	stomach
18	chr21:40229000-40229400	Enhancers	Right Atrium	heart
19	chr21:40229000-40229400	Enhancers	Stomach Mucosa	stomach
20	chr21:40229000-40229400	Flanking Active TSS	K562	blood
21	chr21:40229000-40229600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:40229000-40229600	Enhancers	Left Ventricle	heart
23	chr21:40229000-40229600	Enhancers	Right Ventricle	heart
24	chr21:40229000-40229600	Flanking Active TSS	HepG2	liver
25	chr21:40229000-40230000	Enhancers	Fetal Intestine Small	intestine
26	chr21:40229000-40235000	Enhancers	Fetal Thymus	thymus
27	chr21:40229000-40235000	Enhancers	Dnd41	blood
28	chr21:40229200-40229400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:40229200-40229400	Enhancers	Fetal Lung	lung
30	chr21:40229200-40229800	Enhancers	Fetal Intestine Large	intestine
31	chr21:40229200-40230000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr21:40229200-40236400	Enhancers	Thymus	Thymus

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