Variant report

Variant	rs13249975
Chromosome Location	chr8:4848657-4848658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13265122	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13265437	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13267577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13274516	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13275884	0.83[EUR][1000 genomes]
rs34178473	0.84[EUR][1000 genomes]
rs4092286	0.94[ASN][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	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4847200-4851400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:4848400-4848800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:4848400-4848800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:4848400-4849000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr8:4848400-4849200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:4848400-4849400	Active TSS	Brain Anterior Caudate	brain
7	chr8:4848400-4850200	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr8:4848600-4848800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:4848600-4848800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr8:4848600-4848800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr8:4848600-4848800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
12	chr8:4848600-4849000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:4848600-4849000	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr8:4848600-4849600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr8:4848600-4851000	Active TSS	Brain Angular Gyrus	brain
16	chr8:4848600-4852600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr8:4848600-4852800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:4848600-4852800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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