Variant report

Variant	rs9939399
Chromosome Location	chr16:72277649-72277650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12102716	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330758	1.00[YRI][hapmap]
rs13334089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28378144	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28725328	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8055922	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059679	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932571	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935166	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936828	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938820	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak 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	58 gene(s)	inside rSNPs	diseases
5	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72268400-72280800	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72269200-72280400	Weak transcription	Ovary	ovary
3	chr16:72275200-72282400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:72275600-72278200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:72276200-72280800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:72276200-72281000	Weak transcription	NHDF-Ad	bronchial
7	chr16:72276200-72281200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:72276200-72281400	Weak transcription	HUVEC	blood vessel
9	chr16:72276400-72278000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:72276400-72281800	Weak transcription	NHEK	skin
11	chr16:72276600-72281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:72276600-72282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:72277000-72278200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:72277400-72280800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:72277600-72278200	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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