Variant report

Variant	rs2139233
Chromosome Location	chr7:78718502-78718503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10093286	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102694	0.95[ASN][1000 genomes]
rs10102793	0.95[ASN][1000 genomes]
rs10103006	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10106890	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504293	0.83[EUR][1000 genomes]
rs16924877	0.94[ASN][1000 genomes]
rs16924885	0.94[ASN][1000 genomes]
rs16924887	0.94[ASN][1000 genomes]
rs16924893	0.94[ASN][1000 genomes]
rs16924915	1.00[EUR][1000 genomes]
rs16924929	1.00[EUR][1000 genomes]
rs2222250	1.00[EUR][1000 genomes]
rs28574270	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28651207	0.95[ASN][1000 genomes]
rs28672242	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28788603	1.00[EUR][1000 genomes]
rs6471787	0.94[ASN][1000 genomes]
rs6988456	1.00[EUR][1000 genomes]
rs6992861	0.95[ASN][1000 genomes]
rs7004505	1.00[EUR][1000 genomes]
rs7004697	1.00[EUR][1000 genomes]
rs7007665	1.00[EUR][1000 genomes]
rs7008127	1.00[EUR][1000 genomes]
rs7011055	0.95[ASN][1000 genomes]
rs7011263	0.95[ASN][1000 genomes]
rs7011488	0.95[ASN][1000 genomes]
rs7017277	1.00[EUR][1000 genomes]
rs7822263	1.00[EUR][1000 genomes]
rs7830772	0.95[ASN][1000 genomes]
rs7835053	0.95[ASN][1000 genomes]
rs9692739	1.00[EUR][1000 genomes]
rs9693005	1.00[EUR][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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831040	chr7:78623195-78831998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78713600-78720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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