Variant report

Variant	rs12728274
Chromosome Location	chr1:152682693-152682694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152670766..152673516-chr1:152681946..152683762,2	K562	blood:

Variant related genes	Relation type
ENSG00000187173	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10157301	0.89[ASN][1000 genomes]
rs1048535	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10494277	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10788847	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888512	0.91[EUR][1000 genomes]
rs10888514	0.88[EUR][1000 genomes]
rs11205086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205091	0.91[EUR][1000 genomes]
rs11576287	0.83[ASN][1000 genomes]
rs11578927	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11581045	1.00[JPT][hapmap]
rs11582063	1.00[ASN][1000 genomes]
rs11585409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11586156	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11587012	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11587180	0.89[ASN][1000 genomes]
rs12094874	0.89[ASN][1000 genomes]
rs12239774	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12725760	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12733893	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12747888	1.00[ASN][1000 genomes]
rs12754243	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1332498	0.92[EUR][1000 genomes]
rs1332500	0.91[EUR][1000 genomes]
rs1412541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1412548	0.80[CEU][hapmap]
rs17624493	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17659389	1.00[CHB][hapmap]
rs17661905	1.00[ASN][1000 genomes]
rs1888963	0.90[EUR][1000 genomes]
rs1888964	0.89[ASN][1000 genomes]
rs2339381	0.80[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2879458	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs34013581	0.88[ASN][1000 genomes]
rs34384421	0.89[ASN][1000 genomes]
rs34491286	0.88[ASN][1000 genomes]
rs34565481	0.88[ASN][1000 genomes]
rs34948054	0.88[ASN][1000 genomes]
rs35274012	0.89[ASN][1000 genomes]
rs35393920	0.89[ASN][1000 genomes]
rs35982913	0.88[ASN][1000 genomes]
rs36012879	0.85[ASN][1000 genomes]
rs3814350	0.91[EUR][1000 genomes]
rs41268484	0.89[ASN][1000 genomes]
rs4353097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539140	0.80[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4845318	0.92[EUR][1000 genomes]
rs4845466	0.92[EUR][1000 genomes]
rs4845467	0.92[EUR][1000 genomes]
rs4845468	0.92[EUR][1000 genomes]
rs4845469	0.92[EUR][1000 genomes]
rs4845473	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845474	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845482	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs55683499	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56130300	0.89[ASN][1000 genomes]
rs56180022	0.89[ASN][1000 genomes]
rs61812714	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61813925	0.88[ASN][1000 genomes]
rs6698553	0.91[EUR][1000 genomes]
rs6701365	0.91[EUR][1000 genomes]
rs6701376	0.91[EUR][1000 genomes]
rs7534164	0.92[EUR][1000 genomes]
rs7539924	1.00[ASN][1000 genomes]
rs7545543	0.92[EUR][1000 genomes]
rs7550666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs873775	0.91[EUR][1000 genomes]
rs944682	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv469873	chr1:152563260-152713616	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv482518	chr1:152563260-152713616	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3692902	chr1:152669367-152732567	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv947325	chr1:152670204-152793272	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv34854	chr1:152671913-152756806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv818478	chr1:152672005-152734796	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12728274	LCE1E	cis	lesional skin	skin_eQTL
rs12728274	LCE1D	cis	Skin Sun Exposed Lower leg	GTEx
rs12728274	LCE1E	cis	uninvolved skin	skin_eQTL
rs12728274	LCE1E	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:0 , 50 per page) page:

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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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