Variant report

Variant	rs12548564
Chromosome Location	chr8:117781753-117781754
allele	C/T
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	CEBPB	chr8:117781703-117782034	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
EIF3H	TF binding region
UTP23	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10505283	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10505288	0.81[ASN][1000 genomes]
rs11996147	0.81[ASN][1000 genomes]
rs12541272	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12541592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12545964	0.81[ASN][1000 genomes]
rs12547063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548574	0.88[AMR][1000 genomes]
rs12548586	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343663	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16888632	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2366	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28694617	0.94[ASN][1000 genomes]
rs56316062	0.81[ASN][1000 genomes]
rs764938	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[ASN][1000 genomes]
rs7825662	0.85[JPT][hapmap]
rs7833306	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7844973	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117779400-117782400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:117779600-117781800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:117779800-117781800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr8:117779800-117784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:117779800-117794600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:117780000-117781800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:117780000-117781800	Enhancers	Liver	Liver
8	chr8:117780000-117782000	Enhancers	Ovary	ovary
9	chr8:117780000-117782800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:117780000-117783400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:117780000-117795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:117780200-117782800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:117780200-117783800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:117780200-117784800	Weak transcription	Fetal Kidney	kidney
15	chr8:117780400-117781800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:117780400-117781800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:117780400-117781800	Enhancers	Adipose Nuclei	Adipose
18	chr8:117780400-117781800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:117780400-117781800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:117780400-117781800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:117780400-117781800	Enhancers	NHLF	lung
22	chr8:117780400-117782000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:117780400-117782000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:117780400-117782000	Enhancers	HepG2	liver
25	chr8:117780400-117782200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:117780400-117782200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:117780400-117782400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:117780400-117782400	Weak transcription	A549	lung
29	chr8:117780400-117783000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:117780400-117783000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:117780400-117783200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:117780400-117783400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:117780400-117783400	Weak transcription	NH-A	brain
34	chr8:117780400-117783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:117780400-117783800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:117780400-117783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:117780400-117784000	Weak transcription	Gastric	stomach
38	chr8:117780400-117784200	Weak transcription	Brain Germinal Matrix	brain
39	chr8:117780400-117784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:117780400-117784600	Weak transcription	Esophagus	oesophagus
41	chr8:117780400-117785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:117780400-117785400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:117780400-117787200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:117780400-117787200	Weak transcription	Right Ventricle	heart
45	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
46	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:117780400-117796000	Weak transcription	Lung	lung
48	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
49	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
50	chr8:117780400-117830200	Weak transcription	Aorta	Aorta

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