Variant report

Variant	rs502538
Chromosome Location	chr3:133121602-133121603
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	chr3:133116761..133118281-chr3:133121220..133123369,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1197301	0.83[AMR][1000 genomes]
rs1197302	0.81[AMR][1000 genomes]
rs1197310	0.81[EUR][1000 genomes]
rs1197311	0.87[AMR][1000 genomes]
rs1708376	0.86[AMR][1000 genomes]
rs517255	0.88[EUR][1000 genomes]
rs553211	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs656721	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679749	0.82[EUR][1000 genomes]
rs6802663	0.80[AMR][1000 genomes];0.84[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	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133099600-133122600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:133103400-133123200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:133103400-133123600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:133103800-133123800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:133104000-133122200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:133104400-133131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:133107200-133123800	Weak transcription	Fetal Thymus	thymus
8	chr3:133110800-133123600	Weak transcription	HSMM	muscle
9	chr3:133112600-133122200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:133113400-133122200	Weak transcription	Fetal Lung	lung
11	chr3:133113600-133123600	Weak transcription	HSMMtube	muscle
12	chr3:133114200-133127400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:133119400-133122200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:133120600-133122200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:133120800-133121800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:133120800-133122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:133120800-133122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:133120800-133122200	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:133120800-133123600	Weak transcription	Fetal Brain Female	brain
20	chr3:133121000-133122000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:133121000-133122200	Weak transcription	Brain Angular Gyrus	brain
22	chr3:133121000-133123600	Weak transcription	Brain Germinal Matrix	brain
23	chr3:133121200-133122600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:133121600-133124800	Enhancers	Cortex derived primary cultured neurospheres	brain

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