Variant report

Variant	rs73162045
Chromosome Location	chr22:33396759-33396760
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33386658..33389072-chr22:33395353..33398273,2	MCF-7	breast:
2	chr22:33396499..33397341-chr22:33445248..33445776,2	MCF-7	breast:
3	chr22:32870406..32871047-chr22:33396231..33397141,2	MCF-7	breast:
4	chr22:33396628..33397150-chr22:33599244..33599757,2	MCF-7	breast:
5	22:32920308-32927723..22:33389304-33403028	K562	blood:
6	chr22:33196677..33197366-chr22:33396432..33397359,2	MCF-7	breast:
7	chr22:33322513..33323289-chr22:33396386..33397179,3	MCF-7	breast:
8	chr22:32924267..32925636-chr22:33396396..33397037,4	MCF-7	breast:
9	chr22:33396422..33396949-chr22:33605944..33606773,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11703017	0.80[AMR][1000 genomes]
rs12158631	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12159195	0.87[ASN][1000 genomes]
rs12160502	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4560230	1.00[ASN][1000 genomes]
rs5994652	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5994654	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5998689	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998694	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5998696	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5998697	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73162064	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73162089	0.89[AMR][1000 genomes]
rs73162090	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:33386200-33397000	Enhancers	Placenta	Placenta
3	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
6	chr22:33391600-33399800	Weak transcription	HepG2	liver
7	chr22:33391800-33398400	Enhancers	HMEC	breast
8	chr22:33393000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:33393400-33399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:33395000-33397200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:33395000-33398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:33395000-33398800	Enhancers	NHEK	skin
13	chr22:33395000-33399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:33395200-33397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:33395400-33396800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:33395400-33396800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:33395400-33397000	Enhancers	Fetal Muscle Trunk	muscle
18	chr22:33395400-33397200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:33395600-33396800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:33395600-33397000	Enhancers	Fetal Muscle Leg	muscle
21	chr22:33395800-33396800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:33395800-33396800	Enhancers	Fetal Thymus	thymus
23	chr22:33395800-33397000	Enhancers	Brain Germinal Matrix	brain
24	chr22:33395800-33397200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr22:33395800-33397200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr22:33395800-33397200	Enhancers	Fetal Stomach	stomach
27	chr22:33395800-33397400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:33396000-33396800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr22:33396000-33396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:33396200-33397000	Enhancers	Dnd41	blood
31	chr22:33396200-33397600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr22:33396400-33396800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:33396400-33396800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr22:33396400-33396800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr22:33396400-33396800	Enhancers	Primary hematopoietic stem cells	blood
36	chr22:33396400-33396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:33396400-33396800	Enhancers	Fetal Brain Male	brain
38	chr22:33396400-33396800	Enhancers	Fetal Heart	heart
39	chr22:33396400-33396800	Enhancers	Fetal Lung	lung
40	chr22:33396400-33396800	Enhancers	Lung	lung
41	chr22:33396400-33396800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:33396400-33396800	Enhancers	NH-A	brain
43	chr22:33396400-33397000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:33396400-33397000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:33396400-33397200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr22:33396400-33397200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr22:33396400-33397200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:33396400-33397200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr22:33396400-33398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:33396600-33396800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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