Variant report

No.	Distal block	Cell Line	Cell type
1	chr15:43531183..43533744-chr15:43541275..43544195,2	K562	blood:
2	chr15:43528880..43530995-chr15:43543131..43545896,2	K562	blood:
3	chr15:43524049..43526338-chr15:43541449..43544055,2	K562	blood:
4	chr15:43535426..43538797-chr15:43540482..43544036,3	K562	blood:

Variant related genes	Relation type
ENSG00000104055	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1814540	1.00[EUR][1000 genomes]
rs2037393	1.00[EUR][1000 genomes]
rs2245161	1.00[EUR][1000 genomes]
rs2247734	1.00[EUR][1000 genomes]
rs2249948	1.00[EUR][1000 genomes]
rs2264048	1.00[EUR][1000 genomes]
rs2264051	1.00[EUR][1000 genomes]
rs2412751	1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	1.00[EUR][1000 genomes]
rs28370962	1.00[EUR][1000 genomes]
rs492046	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs509037	1.00[EUR][1000 genomes]
rs509197	1.00[EUR][1000 genomes]
rs555252	1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs573201	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575304	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59083674	1.00[EUR][1000 genomes]
rs6493073	1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs690262	0.86[ASW][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7166596	1.00[EUR][1000 genomes]
rs7173990	0.86[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs74009133	1.00[EUR][1000 genomes]
rs933942	1.00[EUR][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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr15:43536800-43543400	Weak transcription	Esophagus	oesophagus
2	chr15:43538000-43546600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:43541600-43544400	Enhancers	K562	blood
4	chr15:43542000-43543800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:43542200-43546200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43542400-43544000	Enhancers	GM12878-XiMat	blood
7	chr15:43542600-43543800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:43542600-43545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:43542800-43545200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:43542800-43545200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:43542800-43545800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:43543000-43543600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:43543200-43545000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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