Variant report

Variant	rs73848799
Chromosome Location	chr4:129252555-129252556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55964669	1.00[AMR][1000 genomes]
rs57654585	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58676618	1.00[AMR][1000 genomes]
rs73848751	1.00[AMR][1000 genomes]
rs73848781	1.00[AMR][1000 genomes]
rs73848783	1.00[AMR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
3	chr4:129231800-129252600	Weak transcription	Lung	lung
4	chr4:129231800-129255000	Weak transcription	Left Ventricle	heart
5	chr4:129231800-129261000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:129242600-129254800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:129244800-129252800	Weak transcription	HSMMtube	muscle
8	chr4:129244800-129259200	Weak transcription	Stomach Mucosa	stomach
9	chr4:129245000-129253400	Weak transcription	NH-A	brain
10	chr4:129245000-129254000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:129245000-129259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:129245200-129259200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:129245200-129259200	Weak transcription	A549	lung
14	chr4:129245600-129260000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:129245600-129263400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:129249400-129252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:129249600-129254600	Weak transcription	K562	blood
18	chr4:129249600-129259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:129251400-129279600	Weak transcription	Primary T cells from cord blood	blood
20	chr4:129251600-129255400	Enhancers	Fetal Heart	heart
21	chr4:129252400-129252800	Enhancers	Aorta	Aorta
22	chr4:129252400-129254400	Enhancers	HSMM	muscle

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