Variant report

Variant	rs72965992
Chromosome Location	chr2:127127655-127127656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10928762	0.81[ASN][1000 genomes]
rs11896176	0.81[ASN][1000 genomes]
rs12619150	0.96[EUR][1000 genomes]
rs12623955	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623981	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623997	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs168603	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168604	0.97[ASN][1000 genomes]
rs17013551	0.82[ASN][1000 genomes]
rs17013571	0.90[ASN][1000 genomes]
rs17013747	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187215	0.98[ASN][1000 genomes]
rs1905386	0.98[ASN][1000 genomes]
rs191698	0.98[ASN][1000 genomes]
rs2896782	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs359682	0.93[ASN][1000 genomes]
rs359683	0.94[ASN][1000 genomes]
rs359689	0.93[ASN][1000 genomes]
rs359690	0.98[ASN][1000 genomes]
rs359694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs359695	0.98[ASN][1000 genomes]
rs359696	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs359697	1.00[ASN][1000 genomes]
rs359698	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs359699	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs359702	0.98[ASN][1000 genomes]
rs360231	0.81[ASN][1000 genomes]
rs360237	0.81[ASN][1000 genomes]
rs360259	0.81[ASN][1000 genomes]
rs360261	0.83[ASN][1000 genomes]
rs360264	0.83[ASN][1000 genomes]
rs360265	0.83[ASN][1000 genomes]
rs360268	0.83[ASN][1000 genomes]
rs360269	0.86[ASN][1000 genomes]
rs360272	0.87[ASN][1000 genomes]
rs360273	0.87[ASN][1000 genomes]
rs360274	0.87[ASN][1000 genomes]
rs360275	0.87[ASN][1000 genomes]
rs360280	0.87[ASN][1000 genomes]
rs360283	0.90[ASN][1000 genomes]
rs360289	0.90[ASN][1000 genomes]
rs360294	0.91[ASN][1000 genomes]
rs360315	0.91[ASN][1000 genomes]
rs373314	0.98[ASN][1000 genomes]
rs4346328	0.91[ASN][1000 genomes]
rs4513242	0.91[ASN][1000 genomes]
rs4592797	0.90[ASN][1000 genomes]
rs49346	0.98[ASN][1000 genomes]
rs55656522	0.91[ASN][1000 genomes]
rs55753332	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56035712	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56242352	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59340001	0.81[ASN][1000 genomes]
rs60155213	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60323577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60389409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61063069	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs66914537	0.81[ASN][1000 genomes]
rs6756754	0.81[ASN][1000 genomes]
rs6757298	1.00[ASN][1000 genomes]
rs68160725	0.81[ASN][1000 genomes]
rs72965980	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965981	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967704	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72967706	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73953860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73953865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567763	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7567897	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7568138	0.81[ASN][1000 genomes]
rs7595600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600474	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7604200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013181	chr2:126451639-127246965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv997962	chr2:126464195-127234384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv534297	chr2:126506966-127245682	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874998	chr2:126917647-127175585	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv2757831	chr2:127033017-127161094	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759089	chr2:127033017-127161094	Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv874999	chr2:127068140-127218915	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv834364	chr2:127100752-127267070	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127125800-127128400	Enhancers	Adipose Nuclei	Adipose
2	chr2:127126200-127128000	Enhancers	Fetal Muscle Leg	muscle
3	chr2:127126400-127129000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:127126400-127130000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:127126600-127128400	Enhancers	Fetal Heart	heart
6	chr2:127126800-127128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:127127200-127127800	Enhancers	NHLF	lung
8	chr2:127127200-127128200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:127127400-127128000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:127127400-127128200	Enhancers	Brain Substantia Nigra	brain
11	chr2:127127400-127128400	Enhancers	Brain Hippocampus Middle	brain
12	chr2:127127400-127128600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:127127600-127127800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:127127600-127127800	Enhancers	Pancreas	Pancrea
15	chr2:127127600-127128000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:127127600-127128000	Enhancers	Aorta	Aorta
17	chr2:127127600-127128000	Enhancers	Brain Angular Gyrus	brain
18	chr2:127127600-127128000	Enhancers	Left Ventricle	heart
19	chr2:127127600-127128200	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:127127600-127128200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:127127600-127129000	Weak transcription	NH-A	brain

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