Variant report

Variant	rs1052218
Chromosome Location	chr4:481691-481692
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10212708	1.00[AMR][1000 genomes]
rs1838040	1.00[AMR][1000 genomes]
rs4690269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:468000-484600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:468200-492400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:468400-490000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:468400-490000	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:468400-490000	Weak transcription	HepG2	liver
6	chr4:468400-490800	Weak transcription	Brain Angular Gyrus	brain
7	chr4:468400-492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:468400-492000	Weak transcription	Hela-S3	cervix
9	chr4:468400-492200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:469000-485600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr4:470400-487200	Weak transcription	Psoas Muscle	Psoas
12	chr4:472600-486000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:472800-485600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr4:473000-487400	ZNF genes & repeats	Dnd41	blood
15	chr4:473200-492000	Weak transcription	HUVEC	blood vessel
16	chr4:473600-487200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:475200-486000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:475600-490000	Weak transcription	Pancreas	Pancrea
19	chr4:476000-489800	Weak transcription	Brain Substantia Nigra	brain
20	chr4:476200-490000	Weak transcription	Spleen	Spleen
21	chr4:476400-485400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr4:476600-491600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:476800-483600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:476800-485600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:476800-485800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr4:477000-485600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:477600-485400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:478200-483800	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr4:478200-485200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:478200-485600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr4:478200-485600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:478400-482800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:478400-483400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr4:478400-483600	ZNF genes & repeats	Liver	Liver
35	chr4:478400-485000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:478400-485000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr4:478400-485200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:478600-483800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
39	chr4:478600-483800	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr4:478600-485000	ZNF genes & repeats	Fetal Stomach	stomach
41	chr4:478600-485200	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr4:478600-485400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:478600-485400	ZNF genes & repeats	Fetal Brain Female	brain
44	chr4:478600-485800	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr4:478800-482000	ZNF genes & repeats	Placenta	Placenta
46	chr4:478800-483000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:478800-483400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:478800-483600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr4:478800-483600	ZNF genes & repeats	Thymus	Thymus
50	chr4:478800-485600	ZNF genes & repeats	Primary T cells from cord blood	blood

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