Variant report

Variant	rs72998584
Chromosome Location	chr1:76746341-76746342
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	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:

Extended variants
information (count: 21 )
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	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73000416	1.00[AMR][1000 genomes]
rs73000483	1.00[AMR][1000 genomes]
rs73002405	1.00[AMR][1000 genomes]
rs73002412	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002414	0.89[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:3 , 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	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
2	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:76745000-76747000	Weak transcription	Fetal Brain Male	brain
4	chr1:76745000-76747000	Weak transcription	Fetal Brain Female	brain
5	chr1:76745000-76749000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:76745200-76747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:76745200-76747000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:76745200-76747000	Weak transcription	Right Atrium	heart
9	chr1:76745200-76747200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:76745400-76747000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:76745400-76747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76745400-76747000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:76745400-76747000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:76745400-76747000	Weak transcription	Fetal Thymus	thymus
15	chr1:76745400-76747200	Weak transcription	Esophagus	oesophagus
16	chr1:76745400-76750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:76745400-76751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:76745600-76746800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:76745600-76761000	Weak transcription	Aorta	Aorta
20	chr1:76745800-76746400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:76745800-76747200	Weak transcription	Fetal Stomach	stomach
22	chr1:76745800-76750600	Weak transcription	Fetal Kidney	kidney
23	chr1:76745800-76755400	Weak transcription	Fetal Lung	lung
24	chr1:76746200-76750400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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