Variant report

Variant	rs2478257
Chromosome Location	chr1:165499926-165499927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12738175	0.81[ASN][1000 genomes]
rs169556	0.83[ASN][1000 genomes]
rs176230	0.86[ASN][1000 genomes]
rs1913840	0.86[ASN][1000 genomes]
rs2433136	0.83[ASN][1000 genomes]
rs2478258	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2485403	0.86[ASN][1000 genomes]
rs2766082	0.83[ASN][1000 genomes]
rs285461	0.86[ASN][1000 genomes]
rs285463	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs285469	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs285470	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41267562	0.86[ASN][1000 genomes]
rs422264	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6676649	0.81[ASN][1000 genomes]
rs7512674	0.81[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	esv3434870	chr1:165497978-165500276	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165497000-165501400	Weak transcription	Left Ventricle	heart
2	chr1:165497200-165501400	Weak transcription	Right Ventricle	heart
3	chr1:165499200-165501800	Enhancers	Fetal Heart	heart
4	chr1:165499400-165502800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:165499400-165504200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:165499600-165500000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:165499600-165500400	Weak transcription	Right Atrium	heart
8	chr1:165499800-165500800	Weak transcription	Psoas Muscle	Psoas

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Input of quick search could be:

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

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