Variant report

Variant	rs73456930
Chromosome Location	chr13:39972403-39972404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1010912	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1010913	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17059793	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17229177	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17229842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1752055	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17803662	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2182779	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59118983	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59279878	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60354480	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs629373	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73453087	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73453091	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73456912	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73456919	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73456925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73456942	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39960000-39979200	Weak transcription	NHDF-Ad	bronchial
2	chr13:39968200-39973200	Enhancers	Right Ventricle	heart
3	chr13:39969200-39972800	Enhancers	Fetal Muscle Leg	muscle
4	chr13:39969400-39973200	Enhancers	Right Atrium	heart
5	chr13:39969400-39975400	Weak transcription	Brain Substantia Nigra	brain
6	chr13:39969800-39972800	Enhancers	Ovary	ovary
7	chr13:39970000-39975200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:39970000-39975600	Weak transcription	Fetal Brain Female	brain
9	chr13:39970000-39977200	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:39970200-39975400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:39970200-39975600	Weak transcription	Fetal Brain Male	brain
12	chr13:39970200-39979600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:39970400-39974800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:39970400-39975400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:39970400-39975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:39970400-39976600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:39971200-39980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:39971400-39973200	Enhancers	Adipose Nuclei	Adipose
19	chr13:39971400-39973200	Enhancers	Fetal Stomach	stomach
20	chr13:39971400-39973200	Enhancers	Left Ventricle	heart
21	chr13:39971600-39975400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr13:39971800-39973200	Weak transcription	Fetal Kidney	kidney
23	chr13:39972000-39974000	Enhancers	Fetal Heart	heart
24	chr13:39972200-39972600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:39972200-39973000	Enhancers	Lung	lung
26	chr13:39972400-39972600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:39972400-39973600	Weak transcription	Aorta	Aorta
28	chr13:39972400-39979600	Weak transcription	NHLF	lung

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