Variant report

Variant	rs12125731
Chromosome Location	chr1:80519649-80519650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10518631	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10874110	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12125673	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128243	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12407405	0.89[ASN][1000 genomes]
rs1999727	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2050467	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2388957	0.88[EUR][1000 genomes]
rs2388959	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650338	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650450	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6413809	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6413810	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6413811	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424685	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6424686	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6660619	0.96[ASN][1000 genomes]
rs6696850	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699236	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7531191	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs951404	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs981126	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1002522	chr1:80210698-80532133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1011192	chr1:80226910-80532133	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1014763	chr1:80231767-80529703	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv535021	chr1:80231767-80529703	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv462184	chr1:80297950-80731568	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv546645	chr1:80297950-80731568	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv34144	chr1:80321018-80572745	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv871076	chr1:80420407-80556815	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv546646	chr1:80455734-80547435	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv871739	chr1:80455734-80556815	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv546647	chr1:80463537-80556815	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv871474	chr1:80463537-80556815	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv871192	chr1:80477880-80542078	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	nsv871251	chr1:80477880-80556815	Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv462195	chr1:80483974-80556815	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv546648	chr1:80483974-80556815	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
20	nsv546649	chr1:80486347-80542078	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
21	nsv871158	chr1:80486347-80542078	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
22	nsv871935	chr1:80486347-80556815	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
23	nsv870523	chr1:80486347-80662898	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv1012630	chr1:80496394-80761197	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv871577	chr1:80498496-80556815	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
26	nsv871661	chr1:80498496-80563300	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv871201	chr1:80498496-80631231	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv871492	chr1:80498496-80641525	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv546650	chr1:80508854-80547435	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases
30	nsv546651	chr1:80514706-80547435	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
31	nsv546652	chr1:80514706-80556815	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
32	nsv871759	chr1:80514706-80556815	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv871108	chr1:80514706-80563300	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
34	nsv871409	chr1:80515164-80556815	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
35	nsv870712	chr1:80517224-80547435	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80519400-80519800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:80519400-80520800	Enhancers	HMEC	breast
3	chr1:80519600-80520000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:80519600-80520000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:80519600-80520000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:80519600-80520200	Enhancers	Left Ventricle	heart
7	chr1:80519600-80520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:80519600-80520400	Enhancers	NH-A	brain
9	chr1:80519600-80520800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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