Variant report

Variant	rs57469512
Chromosome Location	chr4:57882750-57882751
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	chr4:57882081..57885343-chr4:57886309..57891790,6	K562	blood:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1107675	0.82[ASN][1000 genomes]
rs11727683	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735158	0.93[ASN][1000 genomes]
rs11932673	0.81[ASN][1000 genomes]
rs12511020	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1277287	0.84[ASN][1000 genomes]
rs1277288	0.84[ASN][1000 genomes]
rs1315005	0.84[ASN][1000 genomes]
rs1625691	0.84[ASN][1000 genomes]
rs17081937	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17087307	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17087317	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17087411	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17087414	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1713994	0.93[ASN][1000 genomes]
rs1976780	0.81[ASN][1000 genomes]
rs2412773	0.86[ASN][1000 genomes]
rs34659774	0.81[ASN][1000 genomes]
rs3733306	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41552420	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41556916	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56182208	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56285301	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661194	0.88[ASN][1000 genomes]
rs9942208	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:57848600-57900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:57849000-57900000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:57849200-57886200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:57849600-57884600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:57850600-57899400	Strong transcription	Fetal Thymus	thymus
7	chr4:57850800-57899400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:57851000-57899200	Strong transcription	Primary T cells from cord blood	blood
9	chr4:57851000-57899400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr4:57851200-57897200	Strong transcription	Fetal Intestine Large	intestine
11	chr4:57851400-57894800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:57851600-57899400	Strong transcription	Placenta	Placenta
13	chr4:57851800-57899400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:57851800-57899400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:57851800-57899400	Strong transcription	Liver	Liver
16	chr4:57851800-57899600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:57852000-57892200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:57852000-57894800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:57852000-57898200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:57852200-57899000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:57852200-57899400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:57852600-57899400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:57856000-57899400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:57856200-57886200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:57856800-57900000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:57858200-57899800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:57858400-57899800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:57858400-57899800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:57859000-57898000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr4:57859400-57898600	Strong transcription	Dnd41	blood
31	chr4:57859600-57897800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:57860200-57885000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:57860200-57898800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:57860600-57892800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:57861400-57884400	Strong transcription	Thymus	Thymus
36	chr4:57861400-57895000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr4:57862200-57884400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:57862200-57891600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:57862200-57899400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:57862200-57900000	Strong transcription	Fetal Muscle Leg	muscle
41	chr4:57862400-57883200	Weak transcription	Fetal Heart	heart
42	chr4:57862400-57886400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:57862400-57886600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:57863600-57892000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:57865400-57884400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr4:57865600-57884800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:57865800-57886400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:57866200-57886000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:57866600-57894000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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