Variant report

Variant	rs73152475
Chromosome Location	chr4:53484908-53484909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53484542..53487992-chr4:53577500..53581423,3	K562	blood:
2	chr4:53484445..53487219-chr4:53492303..53494740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226950	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000109189	Chromatin interaction
ENSG00000212588	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1053437	1.00[AMR][1000 genomes]
rs17051569	0.83[AMR][1000 genomes]
rs17051574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051581	1.00[AMR][1000 genomes]
rs17051587	0.83[AMR][1000 genomes]
rs17051624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051645	0.83[AMR][1000 genomes]
rs2898678	0.83[AMR][1000 genomes]
rs61704546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61761593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152438	1.00[AMR][1000 genomes]
rs73152440	0.85[AMR][1000 genomes]
rs73152476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2754049	chr4:53454272-53539672	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv524494	chr4:53459620-53582065	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53451800-53501400	Weak transcription	Small Intestine	intestine
2	chr4:53453000-53485400	Weak transcription	Psoas Muscle	Psoas
3	chr4:53454800-53485400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:53456000-53506400	Weak transcription	HUVEC	blood vessel
5	chr4:53458800-53485000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:53461400-53488200	Weak transcription	NHDF-Ad	bronchial
7	chr4:53463000-53507200	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:53463800-53494000	Weak transcription	NHLF	lung
9	chr4:53464200-53488600	Weak transcription	NHEK	skin
10	chr4:53464200-53494800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:53464200-53523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:53468200-53485000	Weak transcription	Stomach Mucosa	stomach
13	chr4:53468200-53510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:53468400-53485200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:53468600-53493600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:53468600-53497600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:53469800-53485000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:53472600-53499000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:53473000-53506800	Weak transcription	Primary T cells from cord blood	blood
20	chr4:53473600-53491400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:53473600-53507200	Weak transcription	Osteobl	bone
22	chr4:53473800-53490600	Weak transcription	HSMMtube	muscle
23	chr4:53474200-53485000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:53475000-53501200	Weak transcription	Gastric	stomach
25	chr4:53475800-53485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:53476000-53485200	Weak transcription	Brain Angular Gyrus	brain
27	chr4:53476000-53485400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:53476000-53485400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:53476000-53488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:53476000-53489000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:53476000-53491400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:53476000-53494200	Weak transcription	Lung	lung
33	chr4:53476000-53496200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:53476000-53502200	Weak transcription	Pancreas	Pancrea
35	chr4:53476000-53507400	Weak transcription	HSMM	muscle
36	chr4:53476200-53489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:53476600-53488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:53476600-53491000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:53476600-53501600	Weak transcription	HepG2	liver
40	chr4:53476800-53485400	Weak transcription	Fetal Lung	lung
41	chr4:53476800-53485600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:53476800-53488800	Weak transcription	Primary B cells from cord blood	blood
43	chr4:53476800-53490800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:53476800-53491200	Weak transcription	Placenta	Placenta
45	chr4:53476800-53491400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:53476800-53494200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:53476800-53494200	Weak transcription	HMEC	breast
48	chr4:53477000-53485200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:53477000-53491600	Weak transcription	Liver	Liver
50	chr4:53477200-53491000	Weak transcription	Adipose Nuclei	Adipose

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