Variant report

Variant	rs59493428
Chromosome Location	chr1:59062751-59062752
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	chr1:59060827..59062882-chr1:59091146..59093686,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs14008	0.88[ASN][1000 genomes]
rs17096876	0.86[EUR][1000 genomes]
rs17117650	0.86[EUR][1000 genomes]
rs17117654	0.86[EUR][1000 genomes]
rs17117666	0.86[EUR][1000 genomes]
rs17117681	0.86[EUR][1000 genomes]
rs17117688	0.86[EUR][1000 genomes]
rs17117699	0.86[EUR][1000 genomes]
rs17117714	0.86[EUR][1000 genomes]
rs17117717	0.86[EUR][1000 genomes]
rs17117720	0.86[EUR][1000 genomes]
rs17117732	0.86[EUR][1000 genomes]
rs17117747	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17117850	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs179798	0.89[ASN][1000 genomes]
rs2268943	0.88[ASN][1000 genomes]
rs232835	0.85[ASN][1000 genomes]
rs232840	0.88[ASN][1000 genomes]
rs41287654	1.00[AMR][1000 genomes]
rs41287658	1.00[AMR][1000 genomes]
rs41287664	1.00[AMR][1000 genomes]
rs41298539	1.00[AMR][1000 genomes]
rs57318433	0.86[EUR][1000 genomes]
rs57329436	0.86[EUR][1000 genomes]
rs58370911	0.86[EUR][1000 genomes]
rs60008712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60179866	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60614132	0.86[EUR][1000 genomes]
rs6667130	1.00[AMR][1000 genomes]
rs6683669	0.88[ASN][1000 genomes]
rs6691429	1.00[AMR][1000 genomes]
rs6698231	1.00[AMR][1000 genomes]
rs72672292	0.88[ASN][1000 genomes]
rs729084	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7333	0.88[ASN][1000 genomes]
rs7518574	1.00[AMR][1000 genomes]
rs7530611	1.00[AMR][1000 genomes]
rs7533855	1.00[AMR][1000 genomes]
rs7544937	1.00[AMR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59051200-59063400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:59058600-59062800	Weak transcription	Right Ventricle	heart
3	chr1:59058800-59062800	Weak transcription	Aorta	Aorta
4	chr1:59058800-59063200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:59059000-59062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:59059200-59062800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:59059600-59066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59060400-59062800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:59060600-59063600	Enhancers	NHDF-Ad	bronchial
10	chr1:59060600-59082200	Weak transcription	HUVEC	blood vessel
11	chr1:59060800-59062800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:59061200-59074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:59061800-59062800	Enhancers	GM12878-XiMat	blood
14	chr1:59062000-59062800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:59062000-59062800	Enhancers	HSMM	muscle
16	chr1:59062000-59064600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:59062200-59063000	Enhancers	Adipose Nuclei	Adipose
18	chr1:59062200-59063000	Enhancers	Esophagus	oesophagus
19	chr1:59062200-59063000	Enhancers	K562	blood
20	chr1:59062200-59063600	Enhancers	HSMMtube	muscle
21	chr1:59062200-59064000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:59062200-59064600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:59062400-59062800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:59062400-59062800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:59062400-59062800	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:59062400-59062800	Enhancers	HMEC	breast
27	chr1:59062400-59063000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr1:59062400-59063400	Enhancers	Brain Angular Gyrus	brain
29	chr1:59062400-59063600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:59062400-59063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:59062400-59063600	Enhancers	Ovary	ovary
32	chr1:59062400-59063800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:59062400-59063800	Enhancers	Brain Anterior Caudate	brain
34	chr1:59062400-59063800	Enhancers	Brain Substantia Nigra	brain
35	chr1:59062400-59064200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:59062400-59064400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:59062400-59064600	Enhancers	Brain Hippocampus Middle	brain
38	chr1:59062600-59062800	Enhancers	Right Atrium	heart
39	chr1:59062600-59063000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:59062600-59063200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:59062600-59063400	Enhancers	Osteobl	bone
42	chr1:59062600-59063600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:59062600-59063800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:59062600-59064400	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:59062600-59074600	Weak transcription	NHEK	skin

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