Variant report

Variant	rs17878929
Chromosome Location	chr5:79380429-79380430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10462572	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12109181	0.81[EUR][1000 genomes]
rs12110039	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288394	0.89[ASN][1000 genomes]
rs2288395	0.93[ASN][1000 genomes]
rs62363982	0.84[EUR][1000 genomes]
rs6453500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6453501	0.87[EUR][1000 genomes]
rs6891246	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6897999	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7707343	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr5:79366000-79388000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:79366200-79385000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:79366200-79392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:79374800-79381800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:79378200-79385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:79379400-79380600	Weak transcription	HepG2	liver
7	chr5:79379400-79381200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:79379400-79381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:79379400-79381800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:79379400-79388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:79379400-79393200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:79379400-79400600	Weak transcription	Left Ventricle	heart
13	chr5:79379600-79380600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:79379600-79380600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:79379600-79380800	Weak transcription	Brain Anterior Caudate	brain
16	chr5:79379600-79382000	Weak transcription	Brain Angular Gyrus	brain
17	chr5:79379600-79387400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:79379600-79387600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:79379600-79387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:79379600-79387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:79379600-79388000	Weak transcription	Primary T cells from cord blood	blood
22	chr5:79380000-79382000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:79380200-79382400	Enhancers	Brain Hippocampus Middle	brain
24	chr5:79380400-79382400	Enhancers	Brain Substantia Nigra	brain

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