Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40233699..40235250-chr21:40241949..40243850,2	K562	blood:
2	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:
3	chr21:40227190..40230655-chr21:40232406..40235410,3	K562	blood:
4	chr21:40177576..40179439-chr21:40231925..40234002,2	MCF-7	breast:
5	chr21:40231386..40233733-chr21:40237311..40239746,2	K562	blood:
6	chr21:40224619..40227702-chr21:40232966..40234903,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

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

rs_ID	r²[population]
rs1893203	1.00[CHB][hapmap];0.85[AFR][1000 genomes]
rs461522	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55794838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281242	1.00[CHB][hapmap]
rs7281259	1.00[CHB][hapmap]
rs8129453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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:21 , 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	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40229000-40235000	Enhancers	Fetal Thymus	thymus
4	chr21:40229000-40235000	Enhancers	Dnd41	blood
5	chr21:40229200-40236400	Enhancers	Thymus	Thymus
6	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
7	chr21:40231600-40236200	Enhancers	Fetal Muscle Trunk	muscle
8	chr21:40232000-40233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:40232200-40233800	Enhancers	Fetal Lung	lung
10	chr21:40232400-40233800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr21:40232400-40235200	Enhancers	Primary hematopoietic stem cells	blood
12	chr21:40232400-40237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:40232800-40235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:40232800-40235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40233000-40234200	Enhancers	Primary B cells from peripheral blood	blood
16	chr21:40233000-40235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:40233200-40235000	Enhancers	Primary B cells from cord blood	blood
18	chr21:40233400-40234400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr21:40233600-40233800	Enhancers	Spleen	Spleen
20	chr21:40233600-40235600	Weak transcription	Fetal Heart	heart
21	chr21:40233600-40245400	Weak transcription	Right Atrium	heart

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