Variant report

Variant	rs73443830
Chromosome Location	chr7:124395782-124395783
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124394003..124395872-chr7:124402784..124405164,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2190107	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61744942	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6969610	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971960	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6972234	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6973353	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73443829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443835	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443846	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73719044	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792880	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7807266	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124378600-124396600	Weak transcription	Fetal Lung	lung
2	chr7:124385200-124396600	Weak transcription	Aorta	Aorta
3	chr7:124387400-124402600	Weak transcription	Fetal Stomach	stomach
4	chr7:124387600-124396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:124387800-124401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:124392000-124396200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:124392400-124398600	Weak transcription	Fetal Brain Male	brain
8	chr7:124392400-124401200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:124392600-124396000	Weak transcription	NHLF	lung
10	chr7:124393600-124406800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:124393800-124404000	Active TSS	Brain Hippocampus Middle	brain
12	chr7:124394200-124396400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:124394200-124396600	Active TSS	Brain Substantia Nigra	brain
14	chr7:124394400-124396600	Active TSS	Brain Angular Gyrus	brain
15	chr7:124394800-124395800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:124394800-124396400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:124395000-124402400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:124395000-124402600	Weak transcription	Pancreas	Pancrea
19	chr7:124395200-124396200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:124395200-124396200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:124395200-124399000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:124395200-124402600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:124395400-124396000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:124395400-124396600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:124395600-124399200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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