Variant report

Variant	rs72998597
Chromosome Location	chr1:76749779-76749780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2035611	1.00[AMR][1000 genomes]
rs4353143	1.00[AMR][1000 genomes]
rs57964070	0.95[AFR][1000 genomes]
rs58266418	1.00[AMR][1000 genomes]
rs72998539	1.00[AMR][1000 genomes]
rs72998547	1.00[AMR][1000 genomes]
rs72998553	1.00[AMR][1000 genomes]
rs72998571	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73000416	1.00[AMR][1000 genomes]
rs73000483	1.00[AMR][1000 genomes]
rs73002405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002414	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004241	1.00[AMR][1000 genomes]
rs73006152	1.00[AMR][1000 genomes]
rs73006167	1.00[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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
2	chr1:76745400-76750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:76745400-76751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76745600-76761000	Weak transcription	Aorta	Aorta
5	chr1:76745800-76750600	Weak transcription	Fetal Kidney	kidney
6	chr1:76745800-76755400	Weak transcription	Fetal Lung	lung
7	chr1:76746200-76750400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:76747400-76750400	Weak transcription	Fetal Thymus	thymus
9	chr1:76747400-76756200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:76747600-76756400	Weak transcription	Fetal Brain Male	brain
11	chr1:76747600-76757000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76747800-76750800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:76747800-76756200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:76747800-76756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:76749200-76760000	Enhancers	Primary T cells from cord blood	blood
16	chr1:76749400-76750600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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