Variant report

Variant	rs1448472
Chromosome Location	chr2:116363122-116363123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10205583	0.83[ASN][1000 genomes]
rs10205952	0.91[ASN][1000 genomes]
rs13014914	0.83[ASN][1000 genomes]
rs17044776	0.86[ASN][1000 genomes]
rs35366253	0.83[ASN][1000 genomes]
rs4516432	0.83[ASN][1000 genomes]
rs4849413	0.86[ASN][1000 genomes]
rs7419743	0.86[ASN][1000 genomes]
rs7576503	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602082	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7604938	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9711166	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3388257	chr2:116348771-116365419	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116353800-116364000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:116355000-116364000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:116358800-116365600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:116359000-116371000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:116359200-116364800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:116359200-116365600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:116362200-116364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:116363000-116363200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:116363000-116363200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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