Variant report

Variant	rs1508590
Chromosome Location	chr1:92046767-92046768
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	chr1:92046311..92049077-chr1:92051859..92054355,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10782968	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165059	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165064	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1508592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1551581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2089367	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2089368	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4658233	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4658234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72712451	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92035800-92047600	Weak transcription	Ovary	ovary
2	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
5	chr1:92039800-92047200	Enhancers	Fetal Heart	heart
6	chr1:92041800-92051200	Weak transcription	Fetal Brain Male	brain
7	chr1:92042000-92048200	Weak transcription	Fetal Kidney	kidney
8	chr1:92042200-92047600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:92043000-92049000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:92043800-92047800	Weak transcription	Dnd41	blood
11	chr1:92044200-92047400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:92044400-92048200	Weak transcription	A549	lung
13	chr1:92044600-92047800	Weak transcription	Left Ventricle	heart
14	chr1:92044600-92050000	Weak transcription	Lung	lung
15	chr1:92044800-92047000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:92044800-92048000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:92045000-92049000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:92045400-92047200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:92045400-92048000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:92045400-92051400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:92045600-92047200	Weak transcription	Fetal Stomach	stomach
22	chr1:92045600-92047400	Weak transcription	NHDF-Ad	bronchial
23	chr1:92045600-92047600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:92045600-92047800	Weak transcription	Placenta	Placenta
25	chr1:92046000-92047400	Weak transcription	NHLF	lung
26	chr1:92046000-92047800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:92046000-92047800	Weak transcription	K562	blood
28	chr1:92046000-92055000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:92046200-92048000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:92046200-92048000	Weak transcription	Fetal Lung	lung
31	chr1:92046200-92049000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:92046400-92047800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:92046600-92047000	Enhancers	Pancreatic Islets	Pancreatic Islet

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