Variant report

Variant	rs679749
Chromosome Location	chr3:133119626-133119627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1153876	0.84[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1197310	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1197312	0.89[GIH][hapmap];0.80[AMR][1000 genomes]
rs4854721	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs502538	0.82[EUR][1000 genomes]
rs517255	0.93[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs553211	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6807356	1.00[JPT][hapmap]

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:23 , 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	chr3:133110000-133120400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:133110200-133120400	Weak transcription	Fetal Brain Male	brain
10	chr3:133110800-133123600	Weak transcription	HSMM	muscle
11	chr3:133112600-133120400	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:133112600-133122200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:133113400-133120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:133113400-133122200	Weak transcription	Fetal Lung	lung
15	chr3:133113600-133123600	Weak transcription	HSMMtube	muscle
16	chr3:133114200-133127400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:133114800-133120200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:133115800-133120200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:133116000-133120600	Weak transcription	Lung	lung
20	chr3:133116200-133120400	Weak transcription	Brain Germinal Matrix	brain
21	chr3:133119000-133120000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:133119400-133120400	Weak transcription	Fetal Brain Female	brain
23	chr3:133119400-133122200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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