Variant report

No.	Distal block	Cell Line	Cell type
1	chr13:38936992..38939468-chr13:38949359..38952511,3	K562	blood:
2	chr13:38950236..38951997-chr13:38953689..38955262,2	K562	blood:
3	chr13:38921615..38924538-chr13:38949215..38951805,2	K562	blood:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

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

rs_ID	r²[population]
rs1330969	1.00[EUR][1000 genomes]
rs17057723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17057922	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17057928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2231334	1.00[EUR][1000 genomes]
rs4941892	1.00[EUR][1000 genomes]
rs58761976	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs591476	1.00[EUR][1000 genomes]
rs608474	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611989	1.00[EUR][1000 genomes]
rs6563606	1.00[EUR][1000 genomes]
rs7317798	1.00[EUR][1000 genomes]
rs73460211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460298	1.00[EUR][1000 genomes]
rs73462331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462335	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9532205	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38942200-38951000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38949600-38951400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:38950000-38951600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:38950400-38951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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