Variant report

Variant	rs12454335
Chromosome Location	chr18:45680281-45680282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45666537..45669194-chr18:45677559..45680379,3	MCF-7	breast:
2	chr18:45456625..45458617-chr18:45679140..45681264,2	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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11660595	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11663174	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12606239	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34962603	0.91[ASN][1000 genomes]
rs4258692	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4267393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4281790	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55707477	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087433	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087434	0.97[ASN][1000 genomes]
rs7236506	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7505482	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8086449	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9646522	0.90[ASN][1000 genomes]
rs9789091	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9953128	0.89[ASN][1000 genomes]
rs9967534	0.89[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:48 , 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	chr18:45677800-45680800	Enhancers	Fetal Intestine Large	intestine
7	chr18:45677800-45680800	Enhancers	Gastric	stomach
8	chr18:45677800-45682200	Enhancers	Ovary	ovary
9	chr18:45678000-45680600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr18:45678000-45681600	Enhancers	Liver	Liver
11	chr18:45678000-45681800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:45678000-45684600	Enhancers	HMEC	breast
13	chr18:45678200-45681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:45678200-45684400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:45678400-45687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:45678600-45680400	Weak transcription	Colonic Mucosa	Colon
17	chr18:45678600-45686800	Weak transcription	Fetal Muscle Leg	muscle
18	chr18:45678800-45680600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:45679000-45680600	Enhancers	NHEK	skin
20	chr18:45679200-45680400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr18:45679200-45680600	Enhancers	Right Atrium	heart
22	chr18:45679200-45680600	Enhancers	A549	lung
23	chr18:45679200-45680800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr18:45679200-45681400	Enhancers	Esophagus	oesophagus
25	chr18:45679400-45684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:45679600-45680400	Enhancers	NHLF	lung
27	chr18:45679600-45680600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:45679600-45680600	Enhancers	HSMM	muscle
29	chr18:45679600-45680800	Enhancers	Stomach Smooth Muscle	stomach
30	chr18:45679600-45681200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr18:45679800-45680400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr18:45679800-45680400	Enhancers	Aorta	Aorta
33	chr18:45679800-45680400	Enhancers	NHDF-Ad	bronchial
34	chr18:45679800-45680600	Enhancers	NH-A	brain
35	chr18:45679800-45680800	Enhancers	Pancreas	Pancrea
36	chr18:45679800-45681400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr18:45679800-45681400	Enhancers	Spleen	Spleen
38	chr18:45680000-45680400	Enhancers	HSMMtube	muscle
39	chr18:45680000-45680800	Enhancers	Fetal Intestine Small	intestine
40	chr18:45680000-45686200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:45680000-45687000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr18:45680200-45680600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:45680200-45680600	Enhancers	Fetal Muscle Trunk	muscle
44	chr18:45680200-45680800	Enhancers	Duodenum Mucosa	Duodenum
45	chr18:45680200-45680800	Enhancers	Left Ventricle	heart
46	chr18:45680200-45680800	Enhancers	Lung	lung
47	chr18:45680200-45680800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr18:45680200-45680800	Flanking Active TSS	HepG2	liver

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