Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11560085..11562285-chr2:11564604..11566770,2	K562	blood:
2	chr2:11560712..11564441-chr2:11679547..11682198,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196208	Chromatin interaction
ENSG00000264010	Chromatin interaction

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13031472	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13398666	0.92[ASN][1000 genomes]
rs13414905	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4436932	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62118915	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714346	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600698	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
2	chr2:11559000-11561400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:11560000-11561200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:11560000-11561200	Enhancers	Adipose Nuclei	Adipose
5	chr2:11560400-11561200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:11560400-11561200	Enhancers	HSMMtube	muscle
7	chr2:11560400-11562800	Weak transcription	Right Ventricle	heart
8	chr2:11560400-11563000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:11560400-11584000	Weak transcription	Aorta	Aorta
10	chr2:11560600-11561200	Enhancers	NHDF-Ad	bronchial
11	chr2:11560600-11561800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:11560600-11563600	Enhancers	Ovary	ovary
13	chr2:11560600-11576800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:11560800-11562200	Enhancers	HepG2	liver
15	chr2:11561000-11561400	Weak transcription	Fetal Heart	heart
16	chr2:11561000-11561400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:11561000-11561400	Enhancers	Right Atrium	heart
18	chr2:11561000-11561800	Enhancers	Left Ventricle	heart
19	chr2:11561000-11562000	Enhancers	Psoas Muscle	Psoas
20	chr2:11561000-11562200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

Quick Search: