Variant report

Variant	rs72823533
Chromosome Location	chr17:46116643-46116644
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12051	0.94[ASN][1000 genomes]
rs12600980	0.86[EUR][1000 genomes]
rs12601350	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602131	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602670	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12946143	0.89[EUR][1000 genomes]
rs1473117	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16951519	0.93[EUR][1000 genomes]
rs2023885	0.95[EUR][1000 genomes]
rs2229369	0.95[EUR][1000 genomes]
rs2240119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240120	0.95[EUR][1000 genomes]
rs2240121	0.89[EUR][1000 genomes]
rs2285860	0.85[EUR][1000 genomes]
rs2325783	0.95[EUR][1000 genomes]
rs3785737	0.83[EUR][1000 genomes]
rs4995899	0.93[EUR][1000 genomes]
rs55696440	1.00[AFR][1000 genomes]
rs55920502	0.93[EUR][1000 genomes]
rs55982711	0.85[EUR][1000 genomes]
rs58554000	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72823519	0.85[EUR][1000 genomes]
rs72823528	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72823532	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757353	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066049	0.82[EUR][1000 genomes]
rs8071199	0.83[EUR][1000 genomes]
rs978263	0.86[EUR][1000 genomes]
rs9890691	0.83[EUR][1000 genomes]
rs9898218	0.94[ASN][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46114600-46120400	Weak transcription	K562	blood
2	chr17:46115600-46120200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:46115600-46120400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:46115600-46120400	Weak transcription	Psoas Muscle	Psoas
5	chr17:46115600-46123800	Weak transcription	Brain Substantia Nigra	brain
6	chr17:46115800-46117200	Bivalent Enhancer	HepG2	liver
7	chr17:46115800-46120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:46115800-46120200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:46115800-46120200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:46115800-46120200	Weak transcription	NHEK	skin
11	chr17:46115800-46120400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr17:46115800-46120400	Weak transcription	HMEC	breast
13	chr17:46115800-46120400	Weak transcription	HSMMtube	muscle
14	chr17:46115800-46120600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:46115800-46122600	Weak transcription	Esophagus	oesophagus
16	chr17:46115800-46122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:46115800-46122800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:46115800-46122800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:46115800-46123200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:46115800-46123200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:46116000-46117200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:46116000-46119200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:46116000-46119200	Weak transcription	A549	lung
24	chr17:46116000-46120200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:46116000-46120200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:46116000-46120200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:46116000-46120400	Weak transcription	HSMM	muscle
28	chr17:46116000-46120400	Weak transcription	Osteobl	bone
29	chr17:46116000-46122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:46116000-46122600	Weak transcription	NH-A	brain
31	chr17:46116000-46123000	Weak transcription	NHLF	lung
32	chr17:46116000-46124000	Weak transcription	Brain Hippocampus Middle	brain
33	chr17:46116200-46117000	Enhancers	GM12878-XiMat	blood
34	chr17:46116200-46120200	Weak transcription	NHDF-Ad	bronchial
35	chr17:46116200-46120400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:46116600-46116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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