Variant report

Variant	rs72916090
Chromosome Location	chr18:45535122-45535123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45534471..45536793-chr18:45544064..45546732,4	MCF-7	breast:
2	chr18:45298838..45299746-chr18:45534468..45535160,2	K562	blood:
3	chr18:45529545..45532435-chr18:45532709..45536356,5	MCF-7	breast:
4	chr18:45534225..45535501-chr18:45548718..45549807,4	K562	blood:
5	chr18:45275263..45275774-chr18:45534555..45535317,2	K562	blood:
6	chr18:45454989..45458191-chr18:45533485..45536799,4	MCF-7	breast:
7	chr18:45534360..45536045-chr18:45538794..45541681,2	MCF-7	breast:
8	chr18:45528601..45531772-chr18:45533301..45535605,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13382003	1.00[ASN][1000 genomes]
rs28594148	1.00[ASN][1000 genomes]
rs28637555	1.00[ASN][1000 genomes]
rs4328241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329718	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341811	1.00[ASN][1000 genomes]
rs4401107	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603334	0.94[EUR][1000 genomes]
rs4623931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055402	0.94[EUR][1000 genomes]
rs58746990	1.00[ASN][1000 genomes]
rs60118920	1.00[ASN][1000 genomes]
rs7227917	1.00[ASN][1000 genomes]
rs7228052	1.00[ASN][1000 genomes]
rs7242462	1.00[ASN][1000 genomes]
rs72916011	0.94[EUR][1000 genomes]
rs72916012	0.94[EUR][1000 genomes]
rs72916016	0.94[EUR][1000 genomes]
rs72916027	0.94[EUR][1000 genomes]
rs72916029	0.94[EUR][1000 genomes]
rs72916032	0.94[EUR][1000 genomes]
rs72916034	0.94[EUR][1000 genomes]
rs72916036	0.94[EUR][1000 genomes]
rs72916048	0.94[EUR][1000 genomes]
rs72916073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916076	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916088	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916093	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950457	1.00[ASN][1000 genomes]
rs9950557	1.00[ASN][1000 genomes]
rs9957725	1.00[ASN][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45534000-45535200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:45534000-45535200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:45534000-45535200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr18:45534000-45535200	Active TSS	Brain Anterior Caudate	brain
5	chr18:45534000-45535200	Active TSS	Brain Germinal Matrix	brain
6	chr18:45534000-45535200	Bivalent/Poised TSS	HepG2	liver
7	chr18:45534200-45535200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:45534200-45535200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr18:45534200-45535200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:45534200-45535200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:45534200-45535200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr18:45534200-45535200	Active TSS	Muscle Satellite Cultured Cells	--
13	chr18:45534200-45535200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:45534200-45535200	Active TSS	Brain Angular Gyrus	brain
15	chr18:45534200-45535200	Active TSS	Brain Substantia Nigra	brain
16	chr18:45534200-45535200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr18:45534200-45535200	Active TSS	Fetal Lung	lung
18	chr18:45534200-45535200	Active TSS	Ovary	ovary
19	chr18:45534200-45535200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr18:45534200-45535200	Active TSS	Rectal Smooth Muscle	rectum
21	chr18:45534200-45535200	Active TSS	Right Atrium	heart
22	chr18:45534200-45535200	Active TSS	HSMMtube	muscle
23	chr18:45534200-45535200	Active TSS	K562	blood
24	chr18:45534200-45535400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:45534200-45535400	Active TSS	Brain Cingulate Gyrus	brain
26	chr18:45534200-45535400	Active TSS	Colon Smooth Muscle	Colon
27	chr18:45534200-45535800	Enhancers	Stomach Mucosa	stomach
28	chr18:45534400-45535200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr18:45534400-45535200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr18:45534400-45535200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr18:45534400-45535200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:45534400-45535200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:45534400-45535200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:45534400-45535200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr18:45534400-45535200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr18:45534400-45535200	Active TSS	Aorta	Aorta
37	chr18:45534400-45535200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:45534400-45535200	Active TSS	Fetal Kidney	kidney
39	chr18:45534400-45535200	Active TSS	Right Ventricle	heart
40	chr18:45534400-45535200	Active TSS	NHEK	skin
41	chr18:45534600-45535200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:45534600-45535200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:45534600-45535200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:45534600-45535200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr18:45534600-45535200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr18:45534600-45535200	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr18:45534600-45535200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:45534600-45535200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:45534600-45535200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:45534600-45535200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood

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