Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40227171..40228878-chr21:40230837..40233170,2	K562	blood:
2	chr21:40229025..40231300-chr21:40255922..40258531,2	K562	blood:
3	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13047489	0.81[EUR][1000 genomes]
rs13047716	0.81[EUR][1000 genomes]
rs13048664	0.81[EUR][1000 genomes]
rs1534827	0.81[EUR][1000 genomes]
rs1882734	0.83[EUR][1000 genomes]
rs1893203	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2015748	0.81[EUR][1000 genomes]
rs2836703	0.81[EUR][1000 genomes]
rs374575	0.81[EUR][1000 genomes]
rs455328	0.90[EUR][1000 genomes]
rs456574	0.87[EUR][1000 genomes]
rs464366	0.82[EUR][1000 genomes]
rs464476	0.83[EUR][1000 genomes]
rs468057	0.81[EUR][1000 genomes]
rs55938987	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281107	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281192	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281242	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281259	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877372	0.80[EUR][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:20 , 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	chr21:40226400-40231800	Weak transcription	NHEK	skin
7	chr21:40228200-40231000	Enhancers	Fetal Muscle Trunk	muscle
8	chr21:40228400-40231200	Enhancers	Fetal Muscle Leg	muscle
9	chr21:40229000-40235000	Enhancers	Fetal Thymus	thymus
10	chr21:40229000-40235000	Enhancers	Dnd41	blood
11	chr21:40229200-40236400	Enhancers	Thymus	Thymus
12	chr21:40229400-40232200	Weak transcription	Fetal Lung	lung
13	chr21:40229400-40233000	Weak transcription	Right Atrium	heart
14	chr21:40229600-40232800	Weak transcription	Right Ventricle	heart
15	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
16	chr21:40230400-40232400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:40230600-40232200	Weak transcription	HepG2	liver
18	chr21:40230800-40231000	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr21:40230800-40231000	Enhancers	Fetal Heart	heart
20	chr21:40230800-40232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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