Variant report

Variant	rs12092712
Chromosome Location	chr1:73030840-73030841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11209979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058373	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408431	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1373912	0.91[EUR][1000 genomes]
rs1373919	0.90[EUR][1000 genomes]
rs1445583	0.91[EUR][1000 genomes]
rs1445587	0.93[EUR][1000 genomes]
rs1613435	0.91[EUR][1000 genomes]
rs17544161	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1822972	0.91[EUR][1000 genomes]
rs2244695	0.94[EUR][1000 genomes]
rs2797092	0.90[EUR][1000 genomes]
rs4587520	0.94[EUR][1000 genomes]
rs61771846	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61774462	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs895279	0.81[EUR][1000 genomes]
rs895281	0.84[EUR][1000 genomes]
rs986380	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546563	chr1:72956037-73041879	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv871074	chr1:72987229-73100055	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1005157	chr1:73007962-73088158	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv1000359	chr1:73008167-73088158	Enhancers Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv546564	chr1:73010123-73101763	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1000283	chr1:73011908-73088158	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv432157	chr1:73012179-73088158	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	esv2750838	chr1:73012179-73088179	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	esv2750839	chr1:73012179-73088179	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
11	nsv432046	chr1:73012179-73088179	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	nsv1011385	chr1:73012228-73088158	Enhancers Active TSS Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
13	nsv432268	chr1:73012228-73088158	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
14	nsv997766	chr1:73012604-73088158	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
15	nsv1001781	chr1:73012777-73088158	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
16	nsv1007535	chr1:73014642-73088158	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
17	nsv546565	chr1:73015588-73090608	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv516582	chr1:73021243-73084221	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73029000-73034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:73030600-73031000	Enhancers	Fetal Heart	heart
3	chr1:73030600-73031200	Enhancers	Left Ventricle	heart

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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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