Variant report

Variant	rs17879460
Chromosome Location	chr5:79380117-79380118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:79379980-79380130	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr5:79378498-79380239	SK-N-SH	brain:	n/a	chr5:79378809-79378822 chr5:79378802-79378823 chr5:79378807-79378825 chr5:79378808-79378824

Variant related genes	Relation type
ENSG00000249825	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17878812	1.00[AMR][1000 genomes]
rs17879695	1.00[AMR][1000 genomes]
rs17882230	1.00[AMR][1000 genomes]
rs17882513	1.00[AMR][1000 genomes]
rs17886956	1.00[AMR][1000 genomes]
rs59692839	1.00[AMR][1000 genomes]
rs73115672	1.00[AMR][1000 genomes]
rs73123648	1.00[AMR][1000 genomes]
rs73770664	1.00[AMR][1000 genomes]
rs73770679	1.00[AMR][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	chr5:79379800-79380200	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:79380000-79380400	Weak transcription	Brain Substantia Nigra	brain
24	chr5:79380000-79382000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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