Variant report

Variant	rs13275905
Chromosome Location	chr8:11273139-11273140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11271761..11274397-chr8:11330948..11333721,2	MCF-7	breast:
2	chr8:11269234..11272216-chr8:11272728..11274513,2	K562	blood:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10092177	0.83[EUR][1000 genomes]
rs10094320	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10097252	0.97[ASN][1000 genomes]
rs10098597	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099353	0.94[ASN][1000 genomes]
rs10104336	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11250135	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785499	0.89[AMR][1000 genomes]
rs11785520	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13264369	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13266957	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13275123	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6601588	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6980803	0.94[ASN][1000 genomes]
rs6980978	0.89[ASN][1000 genomes]
rs6982763	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985489	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7000458	0.86[ASN][1000 genomes]
rs7000625	0.94[ASN][1000 genomes]
rs7003840	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7017797	0.94[ASN][1000 genomes]
rs7018324	0.94[ASN][1000 genomes]
rs7350091	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7836059	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13275905	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269200-11275600	Enhancers	Fetal Thymus	thymus
2	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
3	chr8:11269800-11274400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:11269800-11274600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:11269800-11274800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:11269800-11275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11269800-11279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:11270000-11279200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:11270200-11274600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:11270800-11275200	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:11271000-11273200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11271000-11275200	Enhancers	Primary B cells from cord blood	blood
13	chr8:11271200-11273400	Enhancers	Thymus	Thymus
14	chr8:11271400-11273200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11271600-11274000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:11271600-11274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:11271600-11275200	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
19	chr8:11271800-11275400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:11272200-11273400	Weak transcription	GM12878-XiMat	blood
21	chr8:11272400-11273200	Enhancers	Osteobl	bone
22	chr8:11272600-11273200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:11272600-11273200	Enhancers	HSMM	muscle
24	chr8:11272600-11274000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:11272600-11274000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:11272600-11274000	Weak transcription	Stomach Mucosa	stomach
27	chr8:11272800-11273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:11272800-11273400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:11273000-11273200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:11273000-11273200	Enhancers	Gastric	stomach
31	chr8:11273000-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:11273000-11287000	Weak transcription	NHEK	skin

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