Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57154877..57155476-chr11:57170117..57170860,2	K562	blood:
2	chr11:57145102..57148601-chr11:57153468..57156551,3	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10736684	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736685	1.00[ASN][1000 genomes]
rs1257719	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1257721	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1348304	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1867126	0.85[AMR][1000 genomes]
rs2584860	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2846392	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2846393	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2846394	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2846395	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs514861	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs521889	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs536352	1.00[ASN][1000 genomes]
rs536455	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs540687	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs544079	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs567118	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs571651	1.00[ASN][1000 genomes]
rs6591423	1.00[GIH][hapmap]
rs6591424	1.00[GIH][hapmap]
rs667864	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs669661	1.00[ASW][hapmap];0.85[AMR][1000 genomes];1.00[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57149200-57171000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:57151000-57170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:57151200-57155600	Enhancers	K562	blood
4	chr11:57151200-57157400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:57153000-57155400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:57153600-57155600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:57153800-57155600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:57154600-57155400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:57154800-57155400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:57154800-57155400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:57155200-57155400	Enhancers	Pancreas	Pancrea
12	chr11:57155200-57155400	Enhancers	Psoas Muscle	Psoas
13	chr11:57155200-57157800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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