Variant report

Variant	rs72922129
Chromosome Location	chr18:45681104-45681105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45456625..45458617-chr18:45679140..45681264,2	MCF-7	breast:
2	chr18:45680562..45685568-chr18:45685976..45689929,7	MCF-7	breast:
3	chr18:45679021..45685767-chr18:45685990..45688234,7	MCF-7	breast:
4	chr18:45678532..45681545-chr18:45682420..45685312,3	MCF-7	breast:
5	chr18:45674100..45677757-chr18:45678763..45682231,4	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11082658	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11660174	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11660636	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11663233	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11664214	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4940291	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4940298	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61031739	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7238859	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72922114	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72922118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72922145	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9952796	0.94[ASN][1000 genomes]
rs9973062	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9973065	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45669400-45685200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:45675800-45682800	Enhancers	Placenta	Placenta
3	chr18:45677200-45681200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:45677200-45682200	Enhancers	Hela-S3	cervix
5	chr18:45677400-45681800	Enhancers	Stomach Mucosa	stomach
6	chr18:45677800-45682200	Enhancers	Ovary	ovary
7	chr18:45678000-45681600	Enhancers	Liver	Liver
8	chr18:45678000-45681800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr18:45678000-45684600	Enhancers	HMEC	breast
10	chr18:45678200-45681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:45678200-45684400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:45678400-45687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:45678600-45686800	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:45679200-45681400	Enhancers	Esophagus	oesophagus
15	chr18:45679400-45684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:45679600-45681200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr18:45679800-45681400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr18:45679800-45681400	Enhancers	Spleen	Spleen
19	chr18:45680000-45686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:45680000-45687000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr18:45680400-45681200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr18:45680400-45681200	Weak transcription	Aorta	Aorta
23	chr18:45680400-45687000	Weak transcription	HSMMtube	muscle
24	chr18:45680600-45682400	Weak transcription	NHEK	skin
25	chr18:45680800-45681400	Enhancers	HepG2	liver
26	chr18:45680800-45682200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr18:45680800-45684200	Weak transcription	Gastric	stomach
28	chr18:45680800-45684400	Weak transcription	Pancreas	Pancrea
29	chr18:45680800-45686000	Weak transcription	Fetal Intestine Large	intestine
30	chr18:45680800-45686200	Weak transcription	Colonic Mucosa	Colon
31	chr18:45680800-45687000	Weak transcription	Fetal Intestine Small	intestine
32	chr18:45680800-45687200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr18:45680800-45687800	Weak transcription	Lung	lung

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