Variant report

Variant	rs28644182
Chromosome Location	chr16:58662841-58662842
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	TAF1	chr16:58662695-58663068	K562	blood:	n/a	n/a
2	MYC	chr16:58662808-58663271	NB4	blood:	n/a	chr16:58663169-58663179
3	ZBTB7A	chr16:58662831-58663848	K562	blood:	n/a	n/a
4	POLR2A	chr16:58662760-58664512	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:58662662-58664730	PBDE	blood:	n/a	n/a
6	GATA1	chr16:58662578-58662987	PBDE	blood:	n/a	chr16:58662845-58662861 chr16:58662849-58662858
7	CREB1	chr16:58662777-58664824	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:58662645-58663211	K562	blood:	n/a	n/a
9	TAF1	chr16:58662734-58663077	K562	blood:	n/a	n/a
10	MXI1	chr16:58662838-58664633	HepG2	liver:	n/a	chr16:58664100-58664109
11	MAX	chr16:58662703-58664797	A549	lung:	n/a	chr16:58663169-58663179
12	TBP	chr16:58662749-58663015	HepG2	liver:	n/a	n/a
13	TBL1XR1	chr16:58662541-58662997	K562	blood:	n/a	n/a
14	HCFC1	chr16:58662786-58663005	K562	blood:	n/a	n/a
15	RFX5	chr16:58662753-58664647	Hela-S3	cervix:	n/a	chr16:58663893-58663902
16	MAZ	chr16:58662702-58664632	GM12878	blood:	n/a	chr16:58663169-58663179
17	ZNF143	chr16:58662833-58663015	K562	blood:	n/a	n/a
18	POLR2A	chr16:58662762-58664658	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr16:58662045-58663179	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:58662775-58664583	GM12878	blood:	n/a	n/a
21	MXI1	chr16:58662015-58663584	K562	blood:	n/a	n/a
22	POLR2A	chr16:58662619-58664559	K562	blood:	n/a	n/a
23	MYC	chr16:58662726-58664667	K562	blood:	n/a	chr16:58663169-58663179
24	POLR2A	chr16:58662720-58664658	K562	blood:	n/a	n/a
25	SPI1	chr16:58662742-58663345	HL-60	blood:	n/a	chr16:58663013-58663026
26	POLR2A	chr16:58662785-58664720	Raji	blood:	n/a	n/a
27	POLR2A	chr16:58662747-58664559	GM12878	blood:	n/a	n/a
28	ELF1	chr16:58662774-58663318	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:58662673-58664603	IMR90	lung:	n/a	n/a
30	ARID3A	chr16:58662784-58662893	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:58662750-58664590	GM12878	blood:	n/a	n/a
32	WRNIP1	chr16:58662785-58663013	GM12878	blood:	n/a	n/a
33	MYC	chr16:58662713-58664683	K562	blood:	n/a	chr16:58663169-58663179
34	POLR2A	chr16:58662685-58664566	K562	blood:	n/a	n/a
35	MAX	chr16:58662807-58664653	NB4	blood:	n/a	chr16:58663169-58663179
36	HA-E2F1	chr16:58662662-58664597	MCF-7	breast:	n/a	chr16:58664316-58664326 chr16:58664317-58664325 chr16:58663316-58663326 chr16:58664317-58664324 chr16:58664318-58664333 chr16:58664031-58664040 chr16:58663463-58663475 chr16:58664317-58664328 chr16:58663028-58663040 chr16:58664317-58664325
37	MAX	chr16:58662734-58664705	HepG2	liver:	n/a	chr16:58663169-58663179
38	TCF7L2	chr16:58662682-58663297	Hela-S3	cervix:	n/a	chr16:58662957-58662966
39	GATA3	chr16:58662666-58663033	T-47D	breast:	n/a	chr16:58662845-58662861 chr16:58662849-58662858
40	POLR2A	chr16:58662637-58664668	GM12878	blood:	n/a	n/a
41	GTF2F1	chr16:58662752-58662999	K562	blood:	n/a	n/a
42	SPI1	chr16:58662801-58663256	HL-60	blood:	n/a	chr16:58663013-58663026
43	MAX	chr16:58662740-58664706	ECC-1	luminal epithelium:	n/a	chr16:58663169-58663179
44	HEY1	chr16:58662654-58664504	K562	blood:	n/a	chr16:58663311-58663326
45	POLR2A	chr16:58662682-58664546	GM12891	blood:	n/a	n/a
46	MAZ	chr16:58662722-58663234	K562	blood:	n/a	chr16:58663169-58663179
47	POLR2A	chr16:58662800-58663149	GM12891	blood:	n/a	n/a
48	SPI1	chr16:58662614-58663433	GM12878	blood:	n/a	chr16:58663013-58663026
49	YY1	chr16:58662764-58664653	GM12892	blood:	n/a	chr16:58663168-58663177 chr16:58663312-58663323 chr16:58663719-58663741 chr16:58663730-58663738
50	MAZ	chr16:58662688-58664668	IMR90	lung:	n/a	chr16:58663169-58663179

No.	Distal block	Cell Line	Cell type
1	chr16:58548462..58552444-chr16:58662683..58665634,8	MCF-7	breast:
2	chr16:58548137..58550781-chr16:58660032..58665456,5	K562	blood:
3	chr16:58662279..58664490-chr16:58710513..58712710,2	MCF-7	breast:
4	chr16:58640624..58642410-chr16:58660651..58663276,2	K562	blood:
5	chr16:58589573..58592420-chr16:58661485..58663108,2	K562	blood:
6	chr16:58544339..58546603-chr16:58662287..58665995,3	MCF-7	breast:
7	chr16:58548342..58552151-chr16:58661453..58664612,4	MCF-7	breast:
8	chr16:58547709..58550850-chr16:58660032..58665316,7	K562	blood:
9	chr16:58652670..58654639-chr16:58660904..58663206,2	MCF-7	breast:
10	chr16:58655492..58660399-chr16:58661254..58664645,7	MCF-7	breast:

Variant related genes	Relation type
CNOT1	TF binding region
ENSG00000103034	Chromatin interaction
ENSG00000125107	Chromatin interaction
ENSG00000103042	Chromatin interaction
ENSG00000103037	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	0.92[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	0.82[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	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938192	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938386	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941013	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1794872	chr16:58619643-58678078	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58660800-58664000	Active TSS	GM12878-XiMat	blood
2	chr16:58661000-58664600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr16:58661000-58664600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:58661000-58665000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr16:58661400-58663000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:58661400-58663000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr16:58661400-58663200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr16:58661400-58663200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:58661400-58664600	Active TSS	NHLF	lung
10	chr16:58661400-58664800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:58661400-58664800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr16:58661400-58664800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:58661400-58665000	Active TSS	Fetal Intestine Large	intestine
14	chr16:58661600-58663000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:58661600-58663000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:58661600-58663000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr16:58661600-58663200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr16:58661600-58664000	Active TSS	HMEC	breast
19	chr16:58661600-58664600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:58661600-58664800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr16:58661600-58664800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:58661600-58664800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:58661600-58664800	Active TSS	Fetal Intestine Small	intestine
24	chr16:58661600-58664800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr16:58661600-58664800	Active TSS	Psoas Muscle	Psoas
26	chr16:58661600-58664800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr16:58661600-58664800	Active TSS	HSMM	muscle
28	chr16:58661800-58664600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:58661800-58664600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:58661800-58664600	Active TSS	Esophagus	oesophagus
31	chr16:58661800-58664800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:58661800-58664800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:58661800-58664800	Active TSS	Colonic Mucosa	Colon
34	chr16:58662000-58663200	Active TSS	Right Atrium	heart
35	chr16:58662000-58664000	Active TSS	Fetal Thymus	thymus
36	chr16:58662000-58664400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:58662000-58664400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:58662000-58664400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:58662000-58664600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr16:58662000-58664600	Active TSS	HSMMtube	muscle
41	chr16:58662000-58664800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr16:58662000-58664800	Active TSS	Placenta	Placenta
43	chr16:58662000-58664800	Active TSS	Left Ventricle	heart
44	chr16:58662000-58664800	Active TSS	Ovary	ovary
45	chr16:58662000-58664800	Active TSS	Thymus	Thymus
46	chr16:58662200-58663000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:58662200-58664000	Active TSS	Primary T cells fromperipheralblood	blood
48	chr16:58662200-58664000	Active TSS	Fetal Muscle Trunk	muscle
49	chr16:58662200-58664000	Active TSS	K562	blood
50	chr16:58662200-58664600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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