Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46543247..46545665-chr17:46551552..46553535,2	K562	blood:
2	chr17:46549229..46552170-chr17:46578852..46580866,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12326027	1.00[ASN][1000 genomes]
rs16954937	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16955293	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16955495	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16956835	1.00[ASN][1000 genomes]
rs2136498	1.00[AMR][1000 genomes]
rs2325947	1.00[AMR][1000 genomes]
rs28566062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2875819	1.00[AMR][1000 genomes]
rs6504258	1.00[ASN][1000 genomes]
rs7210852	1.00[ASN][1000 genomes]
rs7214998	1.00[ASN][1000 genomes]
rs8073595	1.00[ASN][1000 genomes]
rs8074754	1.00[ASN][1000 genomes]
rs9303545	1.00[ASN][1000 genomes]
rs9891014	1.00[ASN][1000 genomes]
rs9895188	1.00[ASN][1000 genomes]
rs9899997	1.00[YRI][hapmap]
rs9907565	1.00[YRI][hapmap]
rs9908054	1.00[ASN][1000 genomes]
rs9911434	1.00[ASN][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46547400-46551600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:46550400-46554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:46550400-46554800	Weak transcription	GM12878-XiMat	blood
4	chr17:46550400-46555200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:46550600-46553600	Weak transcription	K562	blood
6	chr17:46550600-46554600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr17:46550600-46554800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46550600-46555800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:46550800-46555000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:46550800-46555800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:46550800-46559000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:46550800-46559000	Weak transcription	NH-A	brain
13	chr17:46551000-46554800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:46551000-46555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:46551000-46558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:46551400-46556000	Weak transcription	Fetal Kidney	kidney

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