Variant report

Variant	rs8016568
Chromosome Location	chr14:56380471-56380472
allele	C/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	NR3C1	chr14:56380347-56380703	A549	lung:	n/a	chr14:56380498-56380514 chr14:56380498-56380514 chr14:56380499-56380514 chr14:56380495-56380516 chr14:56380499-56380513 chr14:56380498-56380514 chr14:56380499-56380513
2	POLR2A	chr14:56380352-56380709	HUVEC	blood vessel:	n/a	n/a
3	NR3C1	chr14:56380323-56380802	A549	lung:	n/a	chr14:56380498-56380514 chr14:56380498-56380514 chr14:56380499-56380514 chr14:56380495-56380516 chr14:56380499-56380513 chr14:56380498-56380514 chr14:56380499-56380513

Variant related genes	Relation type
ENSG00000259868	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12435758	0.81[ASN][1000 genomes]
rs12588536	0.82[ASN][1000 genomes]
rs17128786	1.00[EUR][1000 genomes]
rs41528447	1.00[EUR][1000 genomes]
rs57760336	0.82[ASN][1000 genomes]
rs58259073	0.82[ASN][1000 genomes]
rs60800881	1.00[EUR][1000 genomes]
rs7154816	1.00[EUR][1000 genomes]
rs73274319	1.00[EUR][1000 genomes]
rs73276081	1.00[EUR][1000 genomes]
rs73280241	1.00[EUR][1000 genomes]
rs8004204	1.00[EUR][1000 genomes]
rs8016445	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56371600-56381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:56373200-56392000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:56377000-56380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:56377600-56382400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:56378000-56380600	Weak transcription	Right Atrium	heart
6	chr14:56378000-56381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:56378000-56382200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:56378200-56380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:56379200-56381600	Enhancers	Osteobl	bone
10	chr14:56379600-56380800	Enhancers	NH-A	brain
11	chr14:56380000-56381800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:56380200-56381200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:56380200-56381200	Enhancers	HUVEC	blood vessel
14	chr14:56380400-56380600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:56380400-56380600	Active TSS	Stomach Smooth Muscle	stomach
16	chr14:56380400-56380800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:56380400-56380800	Enhancers	NHDF-Ad	bronchial
18	chr14:56380400-56381000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:56380400-56381200	Enhancers	Fetal Muscle Leg	muscle
20	chr14:56380400-56381400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:56380400-56382200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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