Variant report

Variant	rs12078989
Chromosome Location	chr1:190387333-190387334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10800940	1.00[AMR][1000 genomes]
rs10920664	1.00[AMR][1000 genomes]
rs10920667	1.00[AMR][1000 genomes]
rs10920685	1.00[AMR][1000 genomes]
rs10920695	1.00[AMR][1000 genomes]
rs12061471	1.00[AMR][1000 genomes]
rs12062310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067650	1.00[AMR][1000 genomes]
rs12069314	1.00[AMR][1000 genomes]
rs12070720	0.91[AFR][1000 genomes]
rs12070897	1.00[AMR][1000 genomes]
rs12074400	1.00[AMR][1000 genomes]
rs12080920	1.00[AMR][1000 genomes]
rs12090663	1.00[AMR][1000 genomes]
rs12093281	1.00[AMR][1000 genomes]
rs12096195	1.00[AMR][1000 genomes]
rs16832207	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv872757	chr1:190351677-190418653	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv872758	chr1:190351677-190510003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1011611	chr1:190364208-190408174	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1001280	chr1:190368571-190408174	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv872759	chr1:190371671-190446098	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv872760	chr1:190377988-190577336	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:190379400-190420000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:190386200-190388200	Weak transcription	Fetal Heart	heart

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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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