Variant report

Variant	rs73385605
Chromosome Location	chr18:8016559-8016560
allele	A/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	chr18:8016344-8016637	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56941238	0.83[AMR][1000 genomes]
rs73383902	0.83[AMR][1000 genomes]
rs73385610	0.83[AMR][1000 genomes]
rs73385619	0.83[AMR][1000 genomes]
rs73385623	0.83[AMR][1000 genomes]
rs8085855	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:8004200-8020200	Weak transcription	Pancreas	Pancrea
5	chr18:8004200-8029000	Weak transcription	Gastric	stomach
6	chr18:8004600-8020200	Weak transcription	Fetal Lung	lung
7	chr18:8004800-8016800	Weak transcription	Aorta	Aorta
8	chr18:8004800-8020200	Weak transcription	Adipose Nuclei	Adipose
9	chr18:8005000-8020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:8006600-8022200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:8006800-8017800	Weak transcription	Right Ventricle	heart
12	chr18:8006800-8020400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:8006800-8029200	Weak transcription	Lung	lung
14	chr18:8007200-8020800	Weak transcription	Psoas Muscle	Psoas
15	chr18:8007800-8020000	Weak transcription	A549	lung
16	chr18:8009000-8025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8009000-8036200	Weak transcription	Thymus	Thymus
18	chr18:8012600-8020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:8013000-8022600	Weak transcription	Left Ventricle	heart
20	chr18:8015200-8020000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:8016200-8016600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:8016200-8017000	Enhancers	Osteobl	bone
23	chr18:8016400-8016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:8016400-8016800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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