Variant report

Variant	rs61783046
Chromosome Location	chr1:85884365-85884366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10493764	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402128	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1523993	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17387935	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17590006	0.86[ASN][1000 genomes]
rs35092233	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35294786	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35876501	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35956189	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36062892	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3768226	0.86[ASN][1000 genomes]
rs4475804	0.88[EUR][1000 genomes]
rs61769490	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6659486	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669293	0.85[ASN][1000 genomes]
rs6673833	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540393	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85873600-85885000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:85873800-85885400	Weak transcription	Fetal Stomach	stomach
3	chr1:85873800-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:85874000-85903800	Weak transcription	NHLF	lung
5	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:85874400-85903600	Weak transcription	HepG2	liver
7	chr1:85874400-85904200	Weak transcription	NH-A	brain
8	chr1:85875400-85885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:85877200-85885600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:85877600-85885800	Weak transcription	HSMMtube	muscle
11	chr1:85879200-85885600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85880400-85884400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:85880400-85884400	Weak transcription	NHDF-Ad	bronchial
14	chr1:85880400-85887600	Weak transcription	Osteobl	bone
15	chr1:85880600-85884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:85882400-85885000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:85883000-85885000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:85883200-85884400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:85883200-85885400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:85883200-85885600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:85883200-85887000	Weak transcription	HSMM	muscle
22	chr1:85883200-85893400	Weak transcription	Aorta	Aorta
23	chr1:85883800-85884400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:85884000-85884400	Flanking Active TSS	HUVEC	blood vessel
25	chr1:85884200-85884600	Enhancers	Ovary	ovary
26	chr1:85884200-85884800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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