Variant report

Variant	rs12082492
Chromosome Location	chr1:190384638-190384639
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10429905	1.00[CEU][hapmap]
rs10800941	0.93[CEU][hapmap]
rs10920705	1.00[CEU][hapmap]
rs10920711	0.93[CEU][hapmap];0.93[GIH][hapmap];0.80[TSI][hapmap]
rs10920715	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12025018	0.93[CEU][hapmap]
rs12030570	0.93[CEU][hapmap]
rs12032164	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12035557	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs12058205	0.86[GIH][hapmap]
rs12060478	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12065497	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12091129	0.93[CEU][hapmap]
rs12095592	0.85[CEU][hapmap]
rs12097042	0.93[CEU][hapmap]
rs12724000	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs12732902	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442568	1.00[CEU][hapmap]
rs1442569	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap]
rs16832305	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs16832366	0.93[CEU][hapmap];0.86[GIH][hapmap]
rs3931875	1.00[CEU][hapmap]
rs4845237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61818785	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61818787	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6658194	0.93[CEU][hapmap]
rs6660355	0.93[CEU][hapmap];0.86[GIH][hapmap]
rs6691819	0.90[EUR][1000 genomes]
rs6691910	1.00[CEU][hapmap];0.89[GIH][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs7527690	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7547903	0.93[CEU][hapmap]
rs980043	0.93[CEU][hapmap];0.86[GIH][hapmap]

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	chr1:190384000-190385400	Weak transcription	Fetal Heart	heart

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