Variant report

Variant	rs722021
Chromosome Location	chr18:8154136-8154137
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	MAFK	chr18:8154131-8154518	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000273368	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11874504	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16952952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952975	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2017321	0.92[AFR][1000 genomes]
rs2058469	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2058470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2080108	0.84[AFR][1000 genomes]
rs2098265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28557220	1.00[CEU][hapmap]
rs4121769	0.84[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs521237	1.00[EUR][1000 genomes]
rs552322	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs626707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs722022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7230799	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7236897	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389732	1.00[EUR][1000 genomes]
rs73389739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389742	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389747	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389751	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389753	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389768	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741110	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082876	1.00[CEU][hapmap]
rs8098561	1.00[CEU][hapmap]

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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
2	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
3	chr18:8139000-8158800	Weak transcription	Pancreas	Pancrea
4	chr18:8141600-8159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr18:8142200-8156000	Weak transcription	HepG2	liver
6	chr18:8142400-8157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:8142600-8160200	Weak transcription	Psoas Muscle	Psoas
8	chr18:8142600-8162400	Weak transcription	Right Ventricle	heart
9	chr18:8145000-8157800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:8145800-8157800	Weak transcription	Adipose Nuclei	Adipose
11	chr18:8146000-8155800	Weak transcription	Fetal Lung	lung
12	chr18:8146200-8162600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:8147400-8154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:8147400-8159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:8149200-8157600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:8149400-8157800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:8151800-8157800	Weak transcription	Fetal Stomach	stomach
18	chr18:8152000-8167200	Weak transcription	Gastric	stomach
19	chr18:8153200-8154400	Enhancers	Fetal Heart	heart
20	chr18:8153200-8154400	Enhancers	A549	lung
21	chr18:8153200-8155200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:8153400-8154600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:8153400-8154800	Enhancers	NHEK	skin
24	chr18:8153600-8154600	Enhancers	HSMM	muscle
25	chr18:8153600-8154800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:8153800-8154200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:8153800-8154600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:8153800-8154600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:8153800-8154600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:8153800-8154800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:8153800-8154800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr18:8153800-8154800	Enhancers	HMEC	breast
33	chr18:8153800-8154800	Enhancers	HSMMtube	muscle
34	chr18:8153800-8154800	Enhancers	Osteobl	bone
35	chr18:8154000-8154200	Enhancers	NH-A	brain
36	chr18:8154000-8154600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:8154000-8154600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:8154000-8154600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:8154000-8154600	Enhancers	Left Ventricle	heart
40	chr18:8154000-8154600	Enhancers	NHDF-Ad	bronchial

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