Variant report

Variant	rs4852280
Chromosome Location	chr2:72269029-72269030
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10204373	0.85[ASN][1000 genomes]
rs13382212	0.81[ASN][1000 genomes]
rs741161	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72266000-72270200	Enhancers	Esophagus	oesophagus
2	chr2:72267600-72269600	Enhancers	HMEC	breast
3	chr2:72267800-72269200	Flanking Active TSS	NHEK	skin
4	chr2:72267800-72269600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:72268200-72269600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:72268600-72269200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:72268600-72269400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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