Variant report

Variant	rs4852278
Chromosome Location	chr2:72264608-72264609
allele	A/G
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:5)

rs_ID	r²[population]
rs12474853	0.96[ASN][1000 genomes]
rs13028486	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34243964	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35667135	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4852279	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874260	chr2:72242013-72268093	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv874261	chr2:72242013-72270790	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv874262	chr2:72242013-72279514	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3584760	chr2:72249991-72271489	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv874263	chr2:72251751-72279514	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72262400-72264800	Enhancers	Spleen	Spleen
2	chr2:72262400-72265200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:72262600-72264800	Enhancers	Esophagus	oesophagus
4	chr2:72262600-72265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:72262600-72265200	Enhancers	HMEC	breast
6	chr2:72262600-72265600	Enhancers	NHEK	skin
7	chr2:72262600-72265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:72263200-72265000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:72263600-72267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:72264000-72264800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:72264000-72264800	Flanking Active TSS	Hela-S3	cervix
12	chr2:72264200-72264800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:72264200-72264800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:72264200-72265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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