Variant report

Variant	rs9935906
Chromosome Location	chr16:47999149-47999150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr16:47998959-48000317	H1-neurons	neurons:	n/a	n/a
2	CEBPB	chr16:47999026-47999309	A549	lung:	n/a	chr16:47999154-47999163 chr16:47999154-47999163 chr16:47999152-47999165 chr16:47999154-47999163
3	SP1	chr16:47999144-47999741	H1-hESC	embryonic stem cell:	n/a	chr16:47999670-47999679
4	CEBPB	chr16:47999045-47999597	IMR90	lung:	n/a	chr16:47999154-47999163 chr16:47999154-47999163 chr16:47999152-47999165 chr16:47999154-47999163
5	REST	chr16:47999121-48000019	H1-neurons	neurons:	n/a	n/a
6	CEBPB	chr16:47999074-47999335	HepG2	liver:	n/a	chr16:47999154-47999163 chr16:47999154-47999163 chr16:47999152-47999165 chr16:47999154-47999163
7	E2F4	chr16:47999127-47999408	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr16:47998984-47999571	H1-hESC	embryonic stem cell:	n/a	chr16:47999154-47999163 chr16:47999154-47999163 chr16:47999152-47999165 chr16:47999154-47999163

Variant related genes	Relation type
ENSG00000260450	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12103023	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13330065	0.90[AMR][1000 genomes]
rs13330477	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13337029	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28508022	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533708	0.87[AFR][1000 genomes]
rs3887008	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3899422	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7184685	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185342	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7190168	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7194254	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7196906	0.90[AMR][1000 genomes]
rs7198239	0.90[AMR][1000 genomes]
rs7199647	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7200033	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7202404	0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016244	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016247	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016251	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs74016265	0.84[AFR][1000 genomes]
rs8044501	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8050751	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8053889	0.90[AMR][1000 genomes]
rs8056932	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923542	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934257	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9938295	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940106	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47991400-47999600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:47997400-47999400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:47997600-47999200	Enhancers	Brain Germinal Matrix	brain
4	chr16:47997600-48001000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr16:47997600-48002000	Enhancers	Fetal Brain Male	brain
6	chr16:47997800-48000200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:47998200-48001000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:47998400-47999600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr16:47998400-48000400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:47998400-48000800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr16:47998600-47999200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr16:47998600-48000000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:47998600-48000200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr16:47998600-48000600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr16:47998600-48001000	Enhancers	HMEC	breast
16	chr16:47998800-47999200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:47998800-47999200	Enhancers	Fetal Brain Female	brain
18	chr16:47998800-48000400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:47998800-48000400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:47998800-48000400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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