Variant report

Variant	rs1439718
Chromosome Location	chr2:77388083-77388084
allele	C/T
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:28)

rs_ID	r²[population]
rs10165731	0.86[CEU][hapmap]
rs10171377	0.96[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10200491	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12614641	0.96[CEU][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12616014	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12617818	0.86[CEU][hapmap]
rs12621843	0.85[CEU][hapmap]
rs12713898	0.82[CEU][hapmap]
rs13007978	0.83[CEU][hapmap]
rs13022425	0.96[CEU][hapmap]
rs13026568	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs13031572	0.83[CEU][hapmap]
rs1837426	0.85[CEU][hapmap]
rs1866565	0.82[CEU][hapmap]
rs1946879	0.83[CEU][hapmap]
rs2119032	0.92[CEU][hapmap]
rs2861012	0.82[CEU][hapmap]
rs2901836	0.83[CEU][hapmap]
rs4369888	0.96[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs4396753	0.83[CEU][hapmap]
rs4467298	0.82[CEU][hapmap]
rs4852430	0.92[CEU][hapmap]
rs4853304	0.86[CEU][hapmap]
rs6547129	0.93[CEU][hapmap]
rs6705164	0.89[CEU][hapmap]
rs6751463	0.83[CEU][hapmap]
rs7582756	0.86[CEU][hapmap]
rs7603914	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1014895	chr2:77263452-77414507	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv874333	chr2:77315349-77798886	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv518504	chr2:77326832-78172786	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1004938	chr2:77347740-78186543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv535783	chr2:77347740-78186543	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv529904	chr2:77347741-78186542	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv997329	chr2:77354560-78176285	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77381000-77388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:77383400-77388200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:77385000-77389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:77388000-77388200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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