Variant report

Variant	rs717049
Chromosome Location	chr13:61497129-61497130
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:13)

rs_ID	r²[population]
rs1504418	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1504421	0.82[ASN][1000 genomes]
rs17223208	0.82[ASN][1000 genomes]
rs17822177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17823487	0.90[ASN][1000 genomes]
rs1983090	0.84[ASN][1000 genomes]
rs2655705	0.90[ASN][1000 genomes]
rs2770909	0.90[ASN][1000 genomes]
rs7327556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7327571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7993826	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9528263	1.00[ASN][1000 genomes]
rs9598190	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832624	chr13:61383648-61553974	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61496600-61497200	Enhancers	Fetal Heart	heart
2	chr13:61496600-61497800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:61496600-61498000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:61496800-61497200	Flanking Active TSS	NHEK	skin
5	chr13:61497000-61497400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:61497000-61497800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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