Variant report

Variant	rs7600678
Chromosome Location	chr2:56247746-56247747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10518794	0.85[EUR][1000 genomes]
rs3791668	1.00[CEU][hapmap]
rs55676306	0.95[EUR][1000 genomes]
rs55749412	0.85[EUR][1000 genomes]
rs55811442	0.85[EUR][1000 genomes]
rs55845766	0.85[EUR][1000 genomes]
rs55912959	1.00[EUR][1000 genomes]
rs56058144	0.95[EUR][1000 genomes]
rs56195925	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309449	0.95[EUR][1000 genomes]
rs56412571	0.85[EUR][1000 genomes]
rs72813864	0.95[EUR][1000 genomes]
rs72813868	0.95[EUR][1000 genomes]
rs72813873	0.95[EUR][1000 genomes]
rs72813875	0.95[EUR][1000 genomes]
rs72813877	0.95[EUR][1000 genomes]
rs72813878	1.00[EUR][1000 genomes]
rs72813879	0.95[EUR][1000 genomes]
rs72813880	0.95[EUR][1000 genomes]
rs72813884	1.00[EUR][1000 genomes]
rs72813888	1.00[EUR][1000 genomes]
rs72813889	0.95[EUR][1000 genomes]
rs72813894	0.95[EUR][1000 genomes]
rs72813900	0.86[EUR][1000 genomes]
rs72813901	0.86[EUR][1000 genomes]
rs72813902	0.86[EUR][1000 genomes]
rs72815903	0.86[EUR][1000 genomes]
rs72815905	0.81[EUR][1000 genomes]
rs72815906	0.81[EUR][1000 genomes]
rs72815909	0.81[EUR][1000 genomes]
rs72815910	0.81[EUR][1000 genomes]
rs72815912	0.81[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56243600-56248200	Weak transcription	Fetal Kidney	kidney
2	chr2:56247400-56247800	Flanking Active TSS	Hela-S3	cervix
3	chr2:56247400-56249000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:56247600-56248000	Enhancers	A549	lung
5	chr2:56247600-56248600	Weak transcription	Pancreas	Pancrea

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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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