Variant report

Variant	rs72729824
Chromosome Location	chr14:70517249-70517250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12881040	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12887763	1.00[ASN][1000 genomes]
rs1459706	0.91[ASN][1000 genomes]
rs1585376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957450	1.00[ASN][1000 genomes]
rs34669253	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36090693	1.00[ASN][1000 genomes]
rs55661016	0.81[ASN][1000 genomes]
rs59560095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729832	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72729838	0.87[AMR][1000 genomes];0.94[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr14:70511200-70518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:70511600-70519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
4	chr14:70513200-70519200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:70513200-70520000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70514200-70518000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:70514600-70531200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:70514800-70517800	Enhancers	HepG2	liver
9	chr14:70515800-70520000	Weak transcription	Fetal Brain Female	brain
10	chr14:70516000-70518800	Weak transcription	Gastric	stomach
11	chr14:70516400-70517800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:70516600-70517800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70516600-70518000	Strong transcription	HSMMtube	muscle
14	chr14:70517000-70517800	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:70517000-70525200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:70517200-70519400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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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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