Variant report

Variant	rs72729887
Chromosome Location	chr14:70564229-70564230
allele	C/T
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:19)

rs_ID	r²[population]
rs10129546	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10138883	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10139405	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142162	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10147004	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28362750	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28413804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435585	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28472318	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28640248	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59764487	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72729840	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72729845	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72729857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72729859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72729860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72729883	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72729889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
3	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70549600-70564400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:70554400-70564400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:70557200-70565200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:70560000-70567600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:70560000-70567800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:70560400-70564400	Weak transcription	Right Atrium	heart
7	chr14:70561800-70565000	Weak transcription	HepG2	liver
8	chr14:70562200-70564400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:70562200-70564800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:70563000-70565400	Enhancers	Psoas Muscle	Psoas
11	chr14:70563400-70565600	Bivalent Enhancer	Fetal Lung	lung
12	chr14:70563400-70567400	Enhancers	HSMMtube	muscle
13	chr14:70563600-70564400	Enhancers	Fetal Brain Male	brain
14	chr14:70563600-70565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:70563600-70565400	Enhancers	Brain Hippocampus Middle	brain
16	chr14:70563600-70566000	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:70563600-70566000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:70563800-70564400	Weak transcription	Fetal Stomach	stomach
19	chr14:70563800-70564400	Weak transcription	Pancreas	Pancrea
20	chr14:70563800-70564800	Enhancers	Fetal Brain Female	brain
21	chr14:70564200-70564400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr14:70564200-70564600	Enhancers	Brain Anterior Caudate	brain

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