Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21259349..21261938-chr2:21262179..21264854,2	K562	blood:
2	chr2:21260491..21263046-chr2:21265697..21267958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084674	Chromatin interaction

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12713956	0.87[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12714102	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12720820	0.88[EUR][1000 genomes]
rs3791981	0.88[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs550619	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs570877	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs579826	APOB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21234800-21262200	Weak transcription	Ovary	ovary
2	chr2:21235000-21261800	Strong transcription	Fetal Intestine Large	intestine
3	chr2:21254400-21262000	Strong transcription	Fetal Intestine Small	intestine
4	chr2:21255400-21262800	Weak transcription	Right Atrium	heart
5	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
6	chr2:21258600-21261800	Genic enhancers	Liver	Liver
7	chr2:21259800-21262800	Weak transcription	Aorta	Aorta
8	chr2:21260400-21266000	Weak transcription	Lung	lung
9	chr2:21260600-21261600	Enhancers	Left Ventricle	heart
10	chr2:21260600-21261600	Enhancers	Right Ventricle	heart
11	chr2:21260600-21261600	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:21260600-21262200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:21260600-21262400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:21260800-21262000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:21261400-21261600	Flanking Active TSS	HSMMtube	muscle
16	chr2:21261400-21262400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:21261400-21262400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:21261400-21262400	Enhancers	Adipose Nuclei	Adipose
19	chr2:21261400-21262400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:21261400-21263000	Enhancers	HSMM	muscle

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