Variant report

Variant	rs72671394
Chromosome Location	chr8:104182847-104182848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1000461	0.82[EUR][1000 genomes]
rs12543973	0.84[EUR][1000 genomes]
rs1494271	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16870221	0.83[EUR][1000 genomes]
rs16870229	0.96[EUR][1000 genomes]
rs1826642	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36016728	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3956319	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59216783	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72671377	0.96[EUR][1000 genomes]
rs72673306	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104177600-104186600	Weak transcription	Aorta	Aorta
2	chr8:104178400-104183800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:104178600-104183800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:104178600-104184800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:104178800-104183800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:104179200-104185400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:104179400-104183200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:104181000-104183800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:104181600-104185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104181800-104183000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr8:104181800-104183200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:104181800-104184400	Active TSS	Brain Anterior Caudate	brain
13	chr8:104182000-104183000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:104182000-104183800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:104182200-104183800	Active TSS	Brain Hippocampus Middle	brain
16	chr8:104182600-104183000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:104182600-104183000	Active TSS	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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