Variant report

Variant	rs1346599
Chromosome Location	chr4:148236619-148236620
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1005771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1366692	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1366694	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1429101	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1429127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1429138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1981987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115561	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2714904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835078	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835079	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6816629	1.00[EUR][1000 genomes]
rs6817192	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6823869	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7694172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934142	0.88[AMR][1000 genomes];1.00[EUR][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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830108	chr4:148114652-148311104	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv4540	chr4:148230593-148275778	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148233600-148237800	Weak transcription	Fetal Lung	lung
2	chr4:148234200-148237800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:148234200-148239600	Weak transcription	Adipose Nuclei	Adipose
4	chr4:148234400-148239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:148234600-148239200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:148234600-148240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:148234600-148247800	Weak transcription	Fetal Stomach	stomach
8	chr4:148235200-148237800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:148235200-148239600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:148235200-148239800	Weak transcription	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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