Variant report

Variant	rs4820820
Chromosome Location	chr22:30235492-30235493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
2	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
3	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
4	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
5	chr22:30224439..30228420-chr22:30233600..30235751,3	K562	blood:
6	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1071888	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1076137	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12168552	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs131278	0.84[EUR][1000 genomes]
rs131291	0.80[AMR][1000 genomes]
rs131294	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs131296	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs140125	0.81[EUR][1000 genomes]
rs140135	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs140142	0.84[EUR][1000 genomes]
rs140151	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17643918	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2105870	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2349225	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs249400	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34862234	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35705048	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36578	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36580	0.83[EUR][1000 genomes]
rs36590	0.83[EUR][1000 genomes]
rs36591	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36594	0.82[EUR][1000 genomes]
rs36596	0.82[EUR][1000 genomes]
rs36598	0.82[EUR][1000 genomes]
rs36600	0.82[EUR][1000 genomes]
rs36601	0.82[EUR][1000 genomes]
rs36604	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36605	0.82[EUR][1000 genomes]
rs36606	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36607	0.82[EUR][1000 genomes]
rs3887275	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3958025	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820822	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4823055	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823063	0.83[EUR][1000 genomes]
rs4993442	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752968	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7286070	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7292615	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8136147	0.83[EUR][1000 genomes]
rs8139994	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8141680	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9620926	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625873	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625874	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625878	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9625879	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30234800-30235800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:30234800-30236400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:30234800-30238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:30234800-30238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:30234800-30238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:30234800-30238200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr22:30234800-30238400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:30234800-30238400	Weak transcription	HSMMtube	muscle
9	chr22:30234800-30238400	Weak transcription	NH-A	brain
10	chr22:30234800-30239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30235000-30235600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:30235000-30236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:30235000-30236400	Weak transcription	HMEC	breast
14	chr22:30235000-30237800	Weak transcription	NHEK	skin
15	chr22:30235000-30238200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:30235000-30238200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:30235000-30238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:30235000-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30235000-30238200	Weak transcription	Stomach Mucosa	stomach
20	chr22:30235000-30238200	Weak transcription	HSMM	muscle
21	chr22:30235000-30238200	Weak transcription	Osteobl	bone
22	chr22:30235000-30238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30235000-30238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr22:30235000-30238400	Weak transcription	HUVEC	blood vessel
25	chr22:30235000-30238400	Weak transcription	NHLF	lung
26	chr22:30235000-30238600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:30235200-30235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:30235200-30236000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:30235200-30236200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:30235200-30237600	Weak transcription	NHDF-Ad	bronchial
31	chr22:30235200-30237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30235200-30237800	Weak transcription	A549	lung
33	chr22:30235200-30238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:30235200-30238200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:30235200-30238200	Weak transcription	Adipose Nuclei	Adipose
36	chr22:30235200-30238200	Weak transcription	HepG2	liver
37	chr22:30235200-30238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:30235200-30238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:30235400-30235800	Weak transcription	K562	blood
40	chr22:30235400-30235800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr22:30235400-30236800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr22:30235400-30237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:30235400-30238200	Weak transcription	Hela-S3	cervix

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