Variant report

Variant	rs12139993
Chromosome Location	chr1:120023015-120023016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120018999..120023274-chr1:120024082..120027954,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10733103	0.91[EUR][1000 genomes]
rs10737750	0.84[ASN][1000 genomes]
rs10737751	0.84[ASN][1000 genomes]
rs10754397	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10754400	0.84[ASN][1000 genomes]
rs10754401	0.83[ASN][1000 genomes]
rs10754402	0.81[ASN][1000 genomes]
rs10754403	0.81[ASN][1000 genomes]
rs10754404	0.81[ASN][1000 genomes]
rs10754405	0.81[ASN][1000 genomes]
rs10754406	0.81[ASN][1000 genomes]
rs10754407	0.81[ASN][1000 genomes]
rs10802100	0.87[EUR][1000 genomes]
rs10802101	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10802108	0.81[ASN][1000 genomes]
rs10802109	0.81[ASN][1000 genomes]
rs10923838	0.94[EUR][1000 genomes]
rs10923839	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10923844	0.84[ASN][1000 genomes]
rs10923845	0.84[ASN][1000 genomes]
rs10923848	0.81[ASN][1000 genomes]
rs12117401	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1341008	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1812256	0.84[ASN][1000 genomes]
rs1856888	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1885001	0.81[ASN][1000 genomes]
rs1998181	0.89[EUR][1000 genomes]
rs1998182	0.89[EUR][1000 genomes]
rs2010580	0.94[EUR][1000 genomes]
rs2010807	0.90[EUR][1000 genomes]
rs2011178	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2011191	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2064901	0.93[EUR][1000 genomes]
rs2064902	0.94[EUR][1000 genomes]
rs2093189	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2104039	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208379	0.81[ASN][1000 genomes]
rs2224397	0.81[ASN][1000 genomes]
rs2236780	0.91[ASN][1000 genomes]
rs2362814	0.81[ASN][1000 genomes]
rs2362815	0.81[ASN][1000 genomes]
rs2885612	0.91[EUR][1000 genomes]
rs3737652	0.81[ASN][1000 genomes]
rs3737653	0.81[ASN][1000 genomes]
rs3765945	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4478857	0.83[ASN][1000 genomes]
rs4515838	0.89[EUR][1000 genomes]
rs4659007	0.89[EUR][1000 genomes]
rs4659182	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4659192	0.81[ASN][1000 genomes]
rs6657934	0.81[ASN][1000 genomes]
rs6662380	0.81[ASN][1000 genomes]
rs6667572	0.96[EUR][1000 genomes]
rs6667901	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686779	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7534643	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs911241	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs911245	0.85[EUR][1000 genomes]
rs951693	0.81[ASN][1000 genomes]
rs9659331	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1002204	chr1:119998794-120033837	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1013126	chr1:119998794-120036937	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120019000-120026400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:120021000-120025800	Weak transcription	Liver	Liver
3	chr1:120022200-120028200	Enhancers	Placenta	Placenta

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