Variant report

Variant	rs16970748
Chromosome Location	chr16:72296448-72296449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72296122..72298333-chr16:72303186..72305689,2	MCF-7	breast:
2	chr16:72291515..72293127-chr16:72296218..72298522,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11859361	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11860402	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11860913	0.84[EUR][1000 genomes]
rs13330202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336735	1.00[EUR][1000 genomes]
rs13338000	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16970746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970754	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16970775	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970782	1.00[EUR][1000 genomes]
rs16970828	0.84[EUR][1000 genomes]
rs28387686	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393088	0.84[EUR][1000 genomes]
rs28447020	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473657	0.84[EUR][1000 genomes]
rs28522627	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569404	1.00[EUR][1000 genomes]
rs7200263	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73582956	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027870	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8046891	0.84[EUR][1000 genomes]
rs8051509	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060309	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9889208	0.84[EUR][1000 genomes]
rs9921204	0.92[EUR][1000 genomes]
rs9922853	0.84[EUR][1000 genomes]
rs9922883	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934766	1.00[MEX][hapmap]
rs9936630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939692	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9941341	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv906897	chr16:72283147-72326375	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72290400-72316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72291400-72303200	Weak transcription	HepG2	liver
3	chr16:72295600-72296800	Weak transcription	Fetal Intestine Small	intestine
4	chr16:72295600-72298200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:72295800-72297600	Enhancers	Brain Substantia Nigra	brain
6	chr16:72296000-72297000	Enhancers	Brain Anterior Caudate	brain
7	chr16:72296000-72297200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:72296000-72297400	Enhancers	Brain Cingulate Gyrus	brain
9	chr16:72296000-72297600	Enhancers	Brain Hippocampus Middle	brain
10	chr16:72296200-72296600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:72296200-72296600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:72296200-72297400	Enhancers	Brain Angular Gyrus	brain
13	chr16:72296200-72297400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr16:72296200-72298400	Enhancers	Fetal Intestine Large	intestine
15	chr16:72296400-72296600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:72296400-72298600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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