Variant report

Variant	rs4519557
Chromosome Location	chr2:191452056-191452057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191447673..191449852-chr2:191450664..191453418,2	K562	blood:
2	chr2:191450640..191452200-chr2:191456453..191459189,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10182630	0.81[AFR][1000 genomes]
rs2028433	0.81[AFR][1000 genomes]
rs4241291	1.00[AFR][1000 genomes]
rs4343494	1.00[AFR][1000 genomes]
rs60854973	0.91[AFR][1000 genomes]
rs6751731	0.81[AFR][1000 genomes]
rs7569979	0.83[AFR][1000 genomes]
rs7571334	0.81[AFR][1000 genomes]
rs7578771	0.83[AFR][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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191443800-191456600	Weak transcription	Psoas Muscle	Psoas
3	chr2:191444200-191456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:191448800-191453600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:191448800-191461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:191449000-191457800	Weak transcription	Hela-S3	cervix
7	chr2:191450400-191454800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:191450400-191455000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:191450600-191452200	Weak transcription	K562	blood
11	chr2:191450600-191454600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:191450600-191456400	Weak transcription	GM12878-XiMat	blood
13	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
14	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:191450800-191454600	Weak transcription	Brain Angular Gyrus	brain
17	chr2:191451200-191457000	Weak transcription	NHDF-Ad	bronchial
18	chr2:191451400-191452400	Enhancers	HepG2	liver
19	chr2:191451800-191452200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:191451800-191452200	Enhancers	Left Ventricle	heart
21	chr2:191452000-191452200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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