Variant report

Variant	rs12068255
Chromosome Location	chr1:197314384-197314385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10157465	1.00[EUR][1000 genomes]
rs10494755	0.88[CEU][hapmap]
rs10922200	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10922201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10922242	1.00[CEU][hapmap]
rs12061783	0.95[EUR][1000 genomes]
rs12062841	1.00[CEU][hapmap]
rs13375540	1.00[CEU][hapmap]
rs1572514	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17618450	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2786104	0.91[EUR][1000 genomes]
rs2821126	0.94[EUR][1000 genomes]
rs61458598	1.00[EUR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197299000-197323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197313800-197324000	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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