Variant report

Variant	rs673251
Chromosome Location	chr18:8339443-8339444
allele	C/G
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	chr18:8339255-8339555	A549	lung:	n/a	n/a
2	NR3C1	chr18:8339187-8339457	A549	lung:	n/a	n/a
3	EP300	chr18:8339263-8339677	A549	lung:	n/a	n/a
4	NR3C1	chr18:8339173-8339873	A549	lung:	n/a	chr18:8339817-8339843
5	FOXA2	chr18:8339188-8339731	A549	lung:	n/a	chr18:8339550-8339562
6	CEBPB	chr18:8339131-8339676	A549	lung:	n/a	n/a
7	TCF12	chr18:8339117-8339999	A549	lung:	n/a	chr18:8339281-8339288 chr18:8339394-8339403
8	CEBPB	chr18:8339369-8339461	K562	blood:	n/a	n/a
9	NR3C1	chr18:8339098-8339916	A549	lung:	n/a	chr18:8339817-8339843

Variant related genes	Relation type
ENSG00000268046	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16953292	0.89[EUR][1000 genomes]
rs34727991	0.91[EUR][1000 genomes]
rs35887101	0.91[EUR][1000 genomes]
rs4511600	0.90[EUR][1000 genomes]
rs608392	0.89[EUR][1000 genomes]
rs8093169	0.83[EUR][1000 genomes]
rs874536	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
3	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
4	chr18:8321200-8341400	Weak transcription	Lung	lung
5	chr18:8325800-8341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:8327600-8339600	Weak transcription	Psoas Muscle	Psoas
7	chr18:8328000-8342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:8329000-8341400	Weak transcription	Fetal Stomach	stomach
9	chr18:8329000-8341400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:8329600-8340400	Weak transcription	HSMMtube	muscle
11	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:8330400-8341600	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:8330600-8341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:8332000-8341400	Weak transcription	Fetal Intestine Small	intestine
16	chr18:8334400-8341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:8334600-8339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:8334600-8341200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:8336000-8339600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:8337000-8341400	Weak transcription	Small Intestine	intestine
21	chr18:8337800-8341600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:8338000-8339600	Weak transcription	Fetal Lung	lung
23	chr18:8338000-8340800	Weak transcription	Stomach Mucosa	stomach
24	chr18:8338800-8341400	Enhancers	HepG2	liver
25	chr18:8339000-8341200	Enhancers	A549	lung
26	chr18:8339200-8340000	Enhancers	Aorta	Aorta
27	chr18:8339400-8339600	Enhancers	Gastric	stomach
28	chr18:8339400-8339800	Enhancers	Ovary	ovary
29	chr18:8339400-8340200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:8339400-8342000	Enhancers	Right Atrium	heart
31	chr18:8339400-8342200	Enhancers	Left Ventricle	heart
32	chr18:8339400-8342200	Enhancers	Right Ventricle	heart
33	chr18:8339400-8342600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:8339400-8344200	Enhancers	Fetal Heart	heart

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