Variant report

Variant	rs2319878
Chromosome Location	chr4:69048597-69048598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10014942	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12502710	1.00[AMR][1000 genomes]
rs12505965	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1814948	1.00[AMR][1000 genomes]
rs2319791	1.00[AMR][1000 genomes]
rs2319792	1.00[AMR][1000 genomes]
rs2319798	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2319877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2874105	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4241689	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4241690	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6552158	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835461	1.00[AMR][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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv4371	chr4:69046637-69081620	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69047400-69048800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:69047800-69048800	Weak transcription	Hela-S3	cervix
3	chr4:69048000-69048600	Enhancers	Esophagus	oesophagus

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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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