Variant report

Variant	rs56819697
Chromosome Location	chr4:460087-460088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:458756..462238-chr4:465323..468292,5	K562	blood:

Variant related genes	Relation type
ENSG00000251595	Chromatin interaction
ENSG00000182903	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34120878	1.00[AMR][1000 genomes]
rs57122804	1.00[AMR][1000 genomes]
rs57823756	1.00[AMR][1000 genomes]
rs61321212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61656126	1.00[AMR][1000 genomes]
rs73056524	1.00[AMR][1000 genomes]
rs73056539	1.00[AMR][1000 genomes]
rs73056540	1.00[AMR][1000 genomes]
rs73056541	1.00[AMR][1000 genomes]
rs73074227	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:407600-466200	ZNF genes & repeats	Liver	Liver
2	chr4:416400-466800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:425400-465400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
4	chr4:433400-466400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr4:433400-467000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:435600-466000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr4:436600-466000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:449400-466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:450800-466400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:452400-460400	Weak transcription	Hela-S3	cervix
11	chr4:452600-461200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:456000-466200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr4:456400-464200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr4:456400-466000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr4:456600-464200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr4:456600-464400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr4:456600-465600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:456600-465600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr4:456600-466000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
20	chr4:456600-466400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr4:456600-466600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr4:456600-466600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:456600-467000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr4:456600-467000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr4:456800-461000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:456800-464200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr4:456800-464800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:456800-466000	ZNF genes & repeats	Fetal Lung	lung
29	chr4:456800-466200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr4:456800-466200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:456800-467200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:457000-462600	ZNF genes & repeats	Ovary	ovary
33	chr4:457000-463800	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr4:457000-464800	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr4:457000-464800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr4:457000-465400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:457000-466000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:457000-466000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:457000-466800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr4:457200-462600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:457200-462600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:457200-463200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr4:457200-464800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr4:457200-464800	ZNF genes & repeats	Thymus	Thymus
45	chr4:457200-465000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:457200-465600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:457200-466000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr4:457200-466200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr4:457200-466200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:457200-466200	ZNF genes & repeats	Fetal Intestine Large	intestine

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