Variant report

Variant	rs2080108
Chromosome Location	chr18:8151042-8151043
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	CTCF	chr18:8150900-8151050	HCPEpiC	choroid plexus:	n/a	n/a
2	RAD21	chr18:8150875-8151132	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000273368	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16952888	0.83[AMR][1000 genomes]
rs16952937	0.86[AFR][1000 genomes]
rs16952952	0.86[AFR][1000 genomes]
rs2017321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098265	0.89[AFR][1000 genomes]
rs4121769	0.88[AFR][1000 genomes]
rs722021	0.84[AFR][1000 genomes]
rs722022	0.86[AFR][1000 genomes]
rs7239189	0.83[AMR][1000 genomes]
rs73387770	0.83[AMR][1000 genomes]
rs73389724	0.81[AFR][1000 genomes]
rs73389726	0.87[AFR][1000 genomes]
rs73389727	0.86[AFR][1000 genomes]
rs73389728	0.88[AFR][1000 genomes]
rs73389739	0.88[AFR][1000 genomes]
rs73389741	0.88[AFR][1000 genomes]
rs73389742	0.88[AFR][1000 genomes]
rs73389747	0.88[AFR][1000 genomes]
rs741110	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8117400-8153200	Weak transcription	Liver	Liver
2	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
3	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
4	chr18:8126800-8153200	Weak transcription	A549	lung
5	chr18:8137400-8153400	Weak transcription	Placenta	Placenta
6	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
7	chr18:8140000-8153200	Weak transcription	Fetal Heart	heart
8	chr18:8141600-8159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr18:8142200-8156000	Weak transcription	HepG2	liver
10	chr18:8142400-8157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:8142600-8151400	Weak transcription	Ovary	ovary
12	chr18:8142600-8153600	Weak transcription	HSMM	muscle
13	chr18:8142600-8160200	Weak transcription	Psoas Muscle	Psoas
14	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
15	chr18:8143000-8153800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:8143200-8153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:8145000-8157800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:8145600-8153800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:8145800-8157800	Weak transcription	Adipose Nuclei	Adipose
20	chr18:8146000-8153600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:8146000-8155800	Weak transcription	Fetal Lung	lung
22	chr18:8146200-8162600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr18:8147000-8154000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:8147400-8154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:8147400-8159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr18:8148000-8153800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:8149200-8157600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:8149400-8157800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:8150800-8152000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:8151000-8151400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:8151000-8151800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:8151000-8151800	Strong transcription	Fetal Stomach	stomach
33	chr18:8151000-8152000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:8151000-8152000	Enhancers	Left Ventricle	heart
35	chr18:8151000-8152200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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