Variant report

Variant	rs1339213
Chromosome Location	chr1:217146433-217146434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10492958	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10492960	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11572489	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11572499	1.00[AFR][1000 genomes]
rs11572623	1.00[YRI][hapmap]
rs12728033	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12741622	0.91[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs12743080	0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs12755398	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1556891	0.86[JPT][hapmap]
rs17044346	1.00[AFR][1000 genomes]
rs17044587	0.91[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs17044788	0.86[JPT][hapmap]
rs17044824	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4846797	0.89[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4846798	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs71643435	0.94[ASN][1000 genomes]
rs867409	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs867410	0.86[JPT][hapmap]

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	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217143800-217149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:217144600-217147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:217145800-217146800	Enhancers	Right Ventricle	heart

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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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