Variant report

Variant	rs3126072
Chromosome Location	chr1:152279729-152279730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10788831	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10888476	0.84[ASN][1000 genomes]
rs10888477	0.86[ASN][1000 genomes]
rs10888478	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204956	0.84[ASN][1000 genomes]
rs11204976	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204978	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11204980	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204981	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11485508	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11576858	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11581433	0.81[EUR][1000 genomes]
rs11584340	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11584427	0.81[EUR][1000 genomes]
rs11586114	0.81[EUR][1000 genomes]
rs11588170	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12027807	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027899	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12045492	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12045496	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12065368	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12405278	0.81[EUR][1000 genomes]
rs12407156	0.81[EUR][1000 genomes]
rs12407553	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12407807	0.81[EUR][1000 genomes]
rs12409802	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12730241	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858479	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858480	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858482	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2065955	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2065956	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2184950	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2184951	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2184953	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2184954	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2338555	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2338556	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3091276	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3120642	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3120653	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3120659	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3120661	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3120662	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3126054	0.85[EUR][1000 genomes]
rs3126055	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3126056	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3126058	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3126060	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3126062	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3126066	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126067	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126074	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3126079	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3126085	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3126088	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3126089	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3126091	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3126092	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3126094	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3126095	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3126097	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3126098	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34029395	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34188926	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41267154	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4256811	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4341364	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4361987	0.83[ASN][1000 genomes]
rs4456097	0.80[ASN][1000 genomes]
rs4466659	0.86[ASN][1000 genomes]
rs4845753	0.86[ASN][1000 genomes]
rs55650366	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57672167	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6587666	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6681433	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6681457	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66831674	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71625201	0.95[EUR][1000 genomes]
rs71625202	0.91[EUR][1000 genomes]
rs72697000	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72698906	0.81[EUR][1000 genomes]
rs74129461	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7540844	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7543541	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9435974	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9436062	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv18892	chr1:152274215-152287539	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3322880	chr1:152274354-152281047	Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1810816	chr1:152274993-152286236	Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1827528	chr1:152274993-152286236	Strong transcription ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1812211	chr1:152275193-152286036	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1826389	chr1:152275193-152286036	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3523401	chr1:152276028-152280426	Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
12	esv3523402	chr1:152276028-152280426	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3354621	chr1:152276028-152280726	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv3395707	chr1:152276067-152282031	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	esv3488067	chr1:152278711-152280840	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
16	esv3488068	chr1:152278711-152280840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152274000-152283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152274200-152281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:152276000-152279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:152276600-152280400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:152277600-152280600	Weak transcription	Esophagus	oesophagus
6	chr1:152277600-152282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:152277600-152283600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
9	chr1:152278800-152281800	Weak transcription	Thymus	Thymus
10	chr1:152279600-152280000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:152279600-152280200	ZNF genes & repeats	Pancreas	Pancrea
12	chr1:152279600-152283000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr1:152279600-152283400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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