Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:129503776..129506354-chr4:129516251..129520377,3	K562	blood:
2	chr4:129504232..129506327-chr4:129510472..129512355,2	K562	blood:
3	chr4:129503836..129506671-chr4:129731437..129733639,2	K562	blood:
4	chr4:129473042..129475194-chr4:129505246..129507814,2	K562	blood:
5	chr4:129505685..129507649-chr4:129513670..129515343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000273077	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17013484	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013486	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57357435	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58160513	0.93[EUR][1000 genomes]
rs58200674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60593095	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60917665	0.90[EUR][1000 genomes]
rs60972557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932244	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72932252	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72932254	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932256	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932261	0.91[AFR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:129495400-129511000	Weak transcription	Right Ventricle	heart
2	chr4:129503800-129506000	Enhancers	Pancreas	Pancrea
3	chr4:129504000-129506200	Enhancers	Fetal Muscle Leg	muscle
4	chr4:129504600-129506000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:129504800-129506200	Enhancers	Stomach Mucosa	stomach
6	chr4:129505000-129506000	Enhancers	Fetal Heart	heart
7	chr4:129505000-129506000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:129505000-129506000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:129505200-129506000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:129505400-129506000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:129505400-129506000	Enhancers	HSMM	muscle
12	chr4:129505400-129506200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:129505400-129507000	Enhancers	Placenta	Placenta
14	chr4:129505600-129506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:129505800-129506000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:129505800-129510200	Weak transcription	Psoas Muscle	Psoas
17	chr4:129505800-129511000	Weak transcription	Left Ventricle	heart
18	chr4:129505800-129511000	Weak transcription	HSMMtube	muscle
19	chr4:129505800-129512000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:129505800-129520400	Weak transcription	Gastric	stomach

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