Variant report

Variant	rs4719393
Chromosome Location	chr7:14219213-14219214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10240586	0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs17167943	0.89[CHD][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap]
rs2108205	0.91[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap]
rs6949550	0.87[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs724735	0.81[CEU][hapmap]

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	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1015312	chr7:14092753-14266917	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1021056	chr7:14162525-14269443	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv8052	chr7:14212806-14230704	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 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	chr7:14218200-14220400	Enhancers	Fetal Brain Female	brain
2	chr7:14218800-14219800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14219000-14220400	Enhancers	Fetal Brain Male	brain

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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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