Variant report

Variant	rs12548184
Chromosome Location	chr8:10786072-10786073
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10785284..10786125-chr8:10873662..10874301,2	K562	blood:
2	chr8:10786051..10786569-chr8:10873648..10874515,2	MCF-7	breast:
3	chr8:10770919..10772954-chr8:10785860..10787582,2	K562	blood:
4	chr8:10785251..10786661-chr8:10833873..10835317,10	K562	blood:
5	chr8:10444778..10445703-chr8:10786032..10786596,2	MCF-7	breast:
6	chr8:10696576..10697375-chr8:10786004..10786544,2	K562	blood:
7	chr8:10785842..10786445-chr8:11136734..11137559,2	MCF-7	breast:
8	chr8:10785773..10786613-chr8:10826278..10826960,2	MCF-7	breast:
9	chr8:10785690..10786544-chr8:10913111..10914143,3	MCF-7	breast:
10	chr8:10785719..10786553-chr8:10802895..10803663,2	K562	blood:
11	chr8:10784899..10786604-chr8:10834371..10835572,13	MCF-7	breast:
12	chr8:10785658..10786600-chr8:10834375..10835298,4	MCF-7	breast:
13	chr8:10785624..10786349-chr8:11136718..11137294,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11250086	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11250092	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11776368	0.83[ASN][1000 genomes]
rs13270870	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34741518	0.80[AMR][1000 genomes]
rs4240671	0.81[EUR][1000 genomes]
rs4240672	0.83[EUR][1000 genomes]
rs4326350	0.81[EUR][1000 genomes]
rs4554431	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841458	0.83[ASN][1000 genomes]
rs6992103	0.83[ASN][1000 genomes]
rs6997839	0.81[EUR][1000 genomes]
rs6997997	0.81[EUR][1000 genomes]
rs7015168	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7016385	0.83[AMR][1000 genomes]
rs7821826	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7823296	0.82[AMR][1000 genomes]
rs7834121	0.87[EUR][1000 genomes]
rs7834248	0.84[EUR][1000 genomes]
rs7837038	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7843470	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12548184	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10785400-10786600	Enhancers	Brain Anterior Caudate	brain
2	chr8:10785600-10786400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:10785600-10786400	Enhancers	Brain Germinal Matrix	brain
4	chr8:10785600-10786400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:10785600-10786400	Enhancers	Gastric	stomach
6	chr8:10785600-10786600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10785600-10786600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:10785600-10786800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:10785600-10786800	Enhancers	Brain Angular Gyrus	brain
10	chr8:10785600-10786800	Enhancers	HMEC	breast
11	chr8:10785600-10787200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:10785800-10786200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr8:10785800-10786200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:10785800-10786200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr8:10785800-10786200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:10785800-10786400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10785800-10786400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:10785800-10786400	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:10785800-10786400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr8:10785800-10786400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:10785800-10786400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:10785800-10786400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:10785800-10786400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:10785800-10786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:10785800-10786400	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:10785800-10786400	Enhancers	Brain Substantia Nigra	brain
27	chr8:10785800-10786400	Enhancers	Esophagus	oesophagus
28	chr8:10785800-10786400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr8:10785800-10786400	Enhancers	Fetal Brain Male	brain
30	chr8:10785800-10786400	Active TSS	Fetal Brain Female	brain
31	chr8:10785800-10786400	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr8:10785800-10786400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr8:10785800-10786400	Enhancers	Lung	lung
34	chr8:10785800-10786400	Enhancers	GM12878-XiMat	blood
35	chr8:10785800-10786600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:10785800-10786600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:10785800-10786600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr8:10785800-10786600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:10785800-10786600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:10785800-10786600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:10785800-10786600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:10785800-10786600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:10785800-10786600	Enhancers	Adipose Nuclei	Adipose
44	chr8:10785800-10786600	Enhancers	Left Ventricle	heart
45	chr8:10785800-10786600	Enhancers	Pancreas	Pancrea
46	chr8:10785800-10786600	Enhancers	Right Ventricle	heart
47	chr8:10785800-10786600	Enhancers	Spleen	Spleen
48	chr8:10786000-10786200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:10786000-10786200	Enhancers	NHEK	skin
50	chr8:10786000-10786400	Active TSS	HUES64 Cell Line	embryonic stem cell

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