Variant report

Variant	rs2120376
Chromosome Location	chr4:99708380-99708381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1406034	1.00[ASN][1000 genomes]
rs1808953	1.00[ASN][1000 genomes]
rs2866025	1.00[ASN][1000 genomes]
rs34108484	1.00[ASN][1000 genomes]
rs34139935	1.00[ASN][1000 genomes]
rs35019282	1.00[ASN][1000 genomes]
rs35070786	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35197075	1.00[ASN][1000 genomes]
rs35248449	1.00[ASN][1000 genomes]
rs35966034	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819703	1.00[CHB][hapmap]
rs6822967	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs894810	1.00[CHB][hapmap]
rs920806	1.00[ASN][1000 genomes]
rs968054	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99694000-99710600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99702000-99716200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:99706200-99721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:99708200-99708600	Active TSS	A549	lung
5	chr4:99708200-99708600	Enhancers	HepG2	liver
6	chr4:99708200-99708600	Enhancers	K562	blood

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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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