Variant report

Variant	rs1553188
Chromosome Location	chr3:112888467-112888468
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr3:112888359-112889168	HEK293-T-REx	kidney:	n/a	chr3:112888933-112888954

Variant related genes	Relation type
ENSG00000243795	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10934225	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1124501	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1124502	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11916474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11916561	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13320844	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6770031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6794073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6794177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6794383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7625299	0.87[AFR][1000 genomes]
rs9288974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9681927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9868047	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs993703	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv517636	chr3:112878536-112893640	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112883800-112889400	Enhancers	Fetal Muscle Leg	muscle
2	chr3:112884000-112889200	Enhancers	Fetal Stomach	stomach
3	chr3:112884000-112889600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:112884000-112889600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:112884200-112888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:112884400-112889400	Enhancers	Fetal Lung	lung
7	chr3:112885000-112889200	Enhancers	Fetal Kidney	kidney
8	chr3:112885200-112889000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:112885400-112889000	Enhancers	Brain Germinal Matrix	brain
10	chr3:112885400-112889000	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:112886200-112888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:112886200-112888800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:112886200-112888800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:112886400-112888800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:112886400-112888800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:112886400-112889200	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:112886400-112893600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:112886400-112893800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:112886400-112893800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:112886600-112889200	Enhancers	Stomach Smooth Muscle	stomach
21	chr3:112887000-112889000	Enhancers	Fetal Brain Female	brain
22	chr3:112887600-112888800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:112887600-112888800	Weak transcription	Right Atrium	heart
24	chr3:112887800-112889400	Enhancers	Colon Smooth Muscle	Colon
25	chr3:112888000-112889200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:112888000-112889200	Enhancers	Fetal Thymus	thymus
27	chr3:112888200-112889200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:112888200-112889400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:112888400-112888600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr3:112888400-112888800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:112888400-112889000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:112888400-112889000	Enhancers	Fetal Intestine Large	intestine
33	chr3:112888400-112889200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:112888400-112889200	Enhancers	Brain Substantia Nigra	brain
35	chr3:112888400-112889400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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