Variant report

Variant	rs57043686
Chromosome Location	chr1:59063401-59063402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10157697	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465804	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207272	0.91[EUR][1000 genomes]
rs11576450	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11578449	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11578722	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11578726	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11579447	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11580213	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11581243	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11582185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11584050	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584589	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11587264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590060	0.84[AMR][1000 genomes]
rs11811483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811899	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12562546	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12564701	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12565004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374003	0.80[AMR][1000 genomes]
rs13375494	0.82[AMR][1000 genomes]
rs13375496	0.80[AMR][1000 genomes]
rs1492719	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17372453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273045	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2407019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34204484	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35584156	0.84[EUR][1000 genomes]
rs36084158	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55742964	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56011712	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097207	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57166198	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57925801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58488453	0.88[AMR][1000 genomes]
rs58575274	0.82[EUR][1000 genomes]
rs58626572	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59450768	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59469255	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59590779	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60217618	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60382465	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60698357	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60869327	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61070091	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61203902	0.88[AMR][1000 genomes]
rs61552468	0.87[EUR][1000 genomes]
rs6661394	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6661513	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6661551	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6661592	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6661808	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6661896	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6661969	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6686203	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72674199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676710	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676712	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72676714	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72676715	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676717	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676720	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676723	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676724	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676726	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676729	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72676731	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59059600-59066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:59060600-59063600	Enhancers	NHDF-Ad	bronchial
3	chr1:59060600-59082200	Weak transcription	HUVEC	blood vessel
4	chr1:59061200-59074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:59062000-59064600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:59062200-59063600	Enhancers	HSMMtube	muscle
7	chr1:59062200-59064000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:59062200-59064600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:59062400-59063600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:59062400-59063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:59062400-59063600	Enhancers	Ovary	ovary
12	chr1:59062400-59063800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:59062400-59063800	Enhancers	Brain Anterior Caudate	brain
14	chr1:59062400-59063800	Enhancers	Brain Substantia Nigra	brain
15	chr1:59062400-59064200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:59062400-59064400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:59062400-59064600	Enhancers	Brain Hippocampus Middle	brain
18	chr1:59062600-59063600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:59062600-59063800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:59062600-59064400	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:59062600-59074600	Weak transcription	NHEK	skin
22	chr1:59062800-59063600	Enhancers	Aorta	Aorta
23	chr1:59062800-59063800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:59062800-59063800	Weak transcription	GM12878-XiMat	blood
25	chr1:59062800-59064000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:59062800-59064000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:59062800-59064600	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:59062800-59074800	Weak transcription	HMEC	breast
29	chr1:59063000-59063600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:59063200-59063600	Enhancers	Right Atrium	heart
31	chr1:59063200-59063600	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:59063200-59063800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:59063200-59063800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:59063200-59064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:59063400-59064600	Enhancers	Primary neutrophils fromperipheralblood	blood

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