Variant report

Variant	rs9941013
Chromosome Location	chr16:58589063-58589064
allele	C/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	CEBPB	chr16:58589029-58589229	A549	lung:	n/a	chr16:58589062-58589073
2	POLR2A	chr16:58588773-58589210	K562	blood:	n/a	n/a
3	CEBPB	chr16:58589014-58589118	K562	blood:	n/a	chr16:58589062-58589073
4	POLR2A	chr16:58588848-58591536	K562	blood:	n/a	n/a
5	CEBPB	chr16:58588985-58589273	HepG2	liver:	n/a	chr16:58589062-58589073

No.	Distal block	Cell Line	Cell type
1	chr16:58577454..58583031-chr16:58585075..58591521,9	K562	blood:
2	chr16:58587685..58589634-chr16:58591144..58592913,2	K562	blood:
3	chr16:58582018..58584830-chr16:58585756..58589135,3	MCF-7	breast:

Variant related genes	Relation type
CNOT1	TF binding region
ENSG00000207493	Chromatin interaction
ENSG00000125107	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13333754	0.81[AFR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335953	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337650	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533067	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28613241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644182	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744389	1.00[EUR][1000 genomes]
rs34698978	1.00[EUR][1000 genomes]
rs57335704	1.00[EUR][1000 genomes]
rs7186446	1.00[EUR][1000 genomes]
rs7193580	1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs8048686	1.00[EUR][1000 genomes]
rs9746055	1.00[EUR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9924494	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9926053	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938386	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv532532	chr16:58116482-58611986	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
3	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
4	esv1800900	chr16:58579274-58615341	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv521338	chr16:58580519-58653838	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58548800-58635600	Strong transcription	Dnd41	blood
2	chr16:58550000-58635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:58550400-58595600	Strong transcription	NHDF-Ad	bronchial
4	chr16:58550600-58594800	Strong transcription	A549	lung
5	chr16:58550600-58595600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:58550600-58596400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:58550600-58596800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:58550600-58625200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr16:58550600-58635200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:58550800-58594200	Strong transcription	HUVEC	blood vessel
11	chr16:58550800-58594600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:58550800-58594600	Strong transcription	HSMM	muscle
13	chr16:58550800-58594800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:58550800-58594800	Strong transcription	Placenta	Placenta
15	chr16:58550800-58595200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:58550800-58595200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:58550800-58596600	Strong transcription	Fetal Intestine Large	intestine
18	chr16:58550800-58597000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:58550800-58606000	Strong transcription	Primary B cells from cord blood	blood
20	chr16:58550800-58616600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:58550800-58623200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:58550800-58625000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:58551000-58594200	Strong transcription	Fetal Lung	lung
24	chr16:58551000-58594800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr16:58551000-58596800	Strong transcription	Fetal Muscle Leg	muscle
26	chr16:58551000-58605600	Strong transcription	Primary T cells from cord blood	blood
27	chr16:58551000-58624000	Strong transcription	Adipose Nuclei	Adipose
28	chr16:58551000-58625200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:58551000-58625400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:58551000-58628800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:58551000-58629200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:58551000-58633400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:58551000-58635000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr16:58551000-58635000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:58551000-58635200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:58551000-58635400	Strong transcription	Fetal Thymus	thymus
37	chr16:58551200-58594600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:58551200-58594600	Strong transcription	HMEC	breast
39	chr16:58551200-58596600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:58551200-58597000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr16:58551200-58597000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:58551200-58601400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr16:58551200-58605400	Strong transcription	K562	blood
44	chr16:58551200-58620400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:58551200-58628200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:58551200-58633400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:58551200-58634800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr16:58551200-58635000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr16:58551200-58635000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr16:58551200-58635400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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