Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27760895..27765009-chr7:27778985..27781333,5	K562	blood:

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction
ENSG00000229893	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17155954	0.81[ASN][1000 genomes]
rs2299105	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55901354	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56916239	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56995723	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58546705	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58651394	0.89[ASN][1000 genomes]
rs58947798	0.85[AMR][1000 genomes]
rs59041966	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59614135	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60636413	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684028	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73684030	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684048	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684050	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684052	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684053	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684055	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684057	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684058	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27762200-27763200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:27762600-27763200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:27762600-27763400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr7:27762800-27763200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:27762800-27763200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:27762800-27763200	Enhancers	Brain Angular Gyrus	brain
8	chr7:27762800-27763200	Enhancers	Brain Anterior Caudate	brain
9	chr7:27762800-27763200	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:27762800-27763200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:27762800-27763200	Enhancers	Rectal Smooth Muscle	rectum
12	chr7:27762800-27763400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:27762800-27763400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:27763000-27763400	Enhancers	Colon Smooth Muscle	Colon
15	chr7:27763000-27763400	Enhancers	Fetal Brain Male	brain

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