Variant report

Variant	rs72853146
Chromosome Location	chr2:30659640-30659641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30659383..30660987-chr2:30671941..30673568,2	K562	blood:
2	chr2:30659090..30661194-chr2:30882993..30885712,2	K562	blood:
3	chr2:30659383..30661784-chr2:30671941..30674589,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72853144	0.83[AMR][1000 genomes]
rs72856659	0.83[AMR][1000 genomes]
rs72863011	0.83[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
2	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
3	chr2:30652000-30660800	Weak transcription	K562	blood
4	chr2:30656800-30660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:30656800-30660400	Weak transcription	Aorta	Aorta
6	chr2:30657400-30659800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:30657800-30659800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30658200-30665600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:30658400-30661000	Weak transcription	Ovary	ovary
10	chr2:30658600-30663000	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:30658600-30663600	Enhancers	Fetal Heart	heart
12	chr2:30659000-30661600	Enhancers	Primary B cells from cord blood	blood
13	chr2:30659200-30660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:30659400-30660600	Enhancers	Adipose Nuclei	Adipose
15	chr2:30659400-30660600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:30659400-30661200	Enhancers	NHDF-Ad	bronchial
17	chr2:30659400-30661400	Enhancers	HUVEC	blood vessel
18	chr2:30659600-30660400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:30659600-30660400	Enhancers	HepG2	liver
20	chr2:30659600-30660600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30659600-30660600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:30659600-30660600	Enhancers	GM12878-XiMat	blood
23	chr2:30659600-30661000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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