Variant report

Variant	rs73445944
Chromosome Location	chr18:45530487-45530488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45529545..45532435-chr18:45532709..45536356,5	MCF-7	breast:
2	chr18:45457609..45458225-chr18:45530268..45531251,3	Hela-S3	cervix:
3	chr18:45455940..45458725-chr18:45529487..45533323,5	MCF-7	breast:
4	chr18:45528601..45531772-chr18:45533301..45535605,3	K562	blood:
5	chr18:45529640..45533731-chr18:45547574..45549695,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59073291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73443992	1.00[AMR][1000 genomes]
rs73445924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73445938	1.00[AFR][1000 genomes]
rs73445941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73445963	1.00[AMR][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45525200-45531200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr18:45527200-45530800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:45528400-45531200	Enhancers	Placenta	Placenta
4	chr18:45528600-45531400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:45528800-45530600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr18:45528800-45530800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr18:45528800-45531200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:45529000-45530600	Enhancers	Left Ventricle	heart
9	chr18:45529000-45530600	Enhancers	Lung	lung
10	chr18:45529000-45530800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:45529000-45530800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr18:45529000-45530800	Enhancers	Right Ventricle	heart
13	chr18:45529000-45531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:45529000-45531000	Enhancers	NHEK	skin
15	chr18:45529000-45531200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr18:45529000-45531200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:45529000-45531200	Enhancers	Fetal Muscle Leg	muscle
18	chr18:45529000-45531200	Enhancers	HUVEC	blood vessel
19	chr18:45529000-45531400	Enhancers	Dnd41	blood
20	chr18:45529200-45530600	Enhancers	Adipose Nuclei	Adipose
21	chr18:45529200-45530600	Enhancers	Colonic Mucosa	Colon
22	chr18:45529200-45530800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:45529200-45530800	Enhancers	Fetal Muscle Trunk	muscle
24	chr18:45529200-45530800	Enhancers	Pancreas	Pancrea
25	chr18:45529200-45531000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:45529200-45531000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:45529200-45531000	Enhancers	HSMMtube	muscle
28	chr18:45529200-45531200	Enhancers	Right Atrium	heart
29	chr18:45529200-45531200	Enhancers	HSMM	muscle
30	chr18:45529200-45531400	Enhancers	Fetal Thymus	thymus
31	chr18:45529200-45531400	Enhancers	HMEC	breast
32	chr18:45529400-45530600	Enhancers	Gastric	stomach
33	chr18:45529400-45530800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:45529400-45531000	Enhancers	NH-A	brain
35	chr18:45529400-45532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:45529400-45533000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:45529600-45530600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr18:45529600-45530600	Enhancers	Stomach Mucosa	stomach
39	chr18:45529600-45530600	Enhancers	NHDF-Ad	bronchial
40	chr18:45529600-45530800	Enhancers	Duodenum Mucosa	Duodenum
41	chr18:45529600-45530800	Enhancers	Osteobl	bone
42	chr18:45529600-45531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:45529600-45531000	Flanking Active TSS	Hela-S3	cervix
44	chr18:45529600-45531200	Enhancers	Thymus	Thymus
45	chr18:45529600-45533000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:45529800-45530600	Enhancers	Small Intestine	intestine
47	chr18:45529800-45530800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:45529800-45530800	Enhancers	Spleen	Spleen
49	chr18:45529800-45531000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:45530000-45530600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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