Variant report

Variant	rs4854583
Chromosome Location	chr3:133112473-133112474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133101161..133103236-chr3:133110708..133113387,2	MCF-7	breast:
2	chr3:133110660..133112809-chr3:133115300..133117323,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1114630	0.89[ASN][1000 genomes]
rs1197287	0.84[ASN][1000 genomes]
rs1197288	0.90[ASN][1000 genomes]
rs1197296	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1197297	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1197298	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1197299	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1197301	0.98[ASN][1000 genomes]
rs1197302	0.89[ASN][1000 genomes]
rs1197304	0.90[ASN][1000 genomes]
rs1197305	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1197306	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1197309	0.90[ASN][1000 genomes]
rs1197313	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1197314	0.89[ASN][1000 genomes]
rs1201671	0.90[ASN][1000 genomes]
rs1201673	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12631678	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1619552	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1619622	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1708376	0.92[ASN][1000 genomes]
rs1708377	0.90[ASN][1000 genomes]
rs1708384	0.90[ASN][1000 genomes]
rs1708385	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1795104	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1795107	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2089987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670179	0.90[ASN][1000 genomes]
rs2699880	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2699882	0.90[ASN][1000 genomes]
rs3732572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4854719	0.90[ASN][1000 genomes]
rs4854720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181416	0.83[ASN][1000 genomes]
rs6780144	0.84[ASN][1000 genomes]
rs6802663	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs938230	0.82[ASN][1000 genomes]
rs9850193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853752	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9853757	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv460857	chr3:133101390-133122216	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv591801	chr3:133101390-133122216	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133099000-133117000	Weak transcription	Placenta	Placenta
2	chr3:133099600-133122600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:133103400-133115200	Weak transcription	Lung	lung
4	chr3:133103400-133123200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:133103400-133123600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:133103800-133115800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:133103800-133118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:133103800-133123800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:133104000-133122200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:133104400-133131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:133107200-133123800	Weak transcription	Fetal Thymus	thymus
12	chr3:133108000-133115200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:133108200-133112800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:133108800-133112800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:133109000-133112800	Strong transcription	Brain Germinal Matrix	brain
16	chr3:133109800-133112800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:133110000-133120400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:133110200-133120400	Weak transcription	Fetal Brain Male	brain
19	chr3:133110600-133112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:133110800-133123600	Weak transcription	HSMM	muscle
21	chr3:133111400-133113200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:133111600-133113600	Strong transcription	HSMMtube	muscle
23	chr3:133111800-133112600	Enhancers	Brain Hippocampus Middle	brain
24	chr3:133111800-133112800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:133111800-133113200	Enhancers	Right Atrium	heart
26	chr3:133111800-133114200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:133112000-133112600	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:133112000-133112600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:133112000-133112600	Genic enhancers	Fetal Brain Female	brain
30	chr3:133112000-133112800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:133112000-133112800	Weak transcription	Left Ventricle	heart
32	chr3:133112000-133113200	Enhancers	Right Ventricle	heart
33	chr3:133112000-133114000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr3:133112200-133112600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:133112200-133112600	Genic enhancers	Fetal Lung	lung
36	chr3:133112200-133114200	Enhancers	Osteobl	bone
37	chr3:133112400-133113200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:133112400-133114800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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