Variant report

Variant	rs12129947
Chromosome Location	chr1:210788531-210788532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10746429	1.00[ASN][1000 genomes]
rs12117119	0.97[ASN][1000 genomes]
rs12120216	1.00[ASN][1000 genomes]
rs12121562	1.00[ASN][1000 genomes]
rs12123110	1.00[ASN][1000 genomes]
rs12124591	1.00[ASN][1000 genomes]
rs12127035	0.94[ASN][1000 genomes]
rs12128590	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34023395	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34539121	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35497872	1.00[ASN][1000 genomes]
rs4495704	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6683265	1.00[ASN][1000 genomes]

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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873149	chr1:210749312-210793972	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210781400-210791000	Weak transcription	HSMMtube	muscle

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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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