Variant report

Variant	rs11645408
Chromosome Location	chr16:75284232-75284233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr16:75284134-75284483	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:75284142-75285653	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:75283441-75286634	HUVEC	blood vessel:	n/a	n/a
5	SIN3A	chr16:75284228-75286267	H1-hESC	embryonic stem cell:	n/a	chr16:75285604-75285617 chr16:75285486-75285497 chr16:75286024-75286032
6	POLR2A	chr16:75278032-75286811	HepG2	liver:	n/a	n/a
7	SIN3AK20	chr16:75284171-75285736	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
9	FOSL2	chr16:75284200-75286153	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:75283930-75284667	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
13	RFX5	chr16:75283865-75284664	Hela-S3	cervix:	n/a	n/a
14	SMC3	chr16:75283945-75284262	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr16:75283492-75286412	HepG2	liver:	n/a	n/a
16	TBP	chr16:75283962-75284480	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:75283892-75285763	Hela-S3	cervix:	n/a	n/a
18	SMARCC1	chr16:75283658-75285335	Hela-S3	cervix:	n/a	n/a
19	SMARCB1	chr16:75283747-75286147	Hela-S3	cervix:	n/a	n/a
20	MYBL2	chr16:75283823-75286515	HepG2	liver:	n/a	n/a
21	CHD1	chr16:75282576-75286469	IMR90	lung:	n/a	n/a
22	MAZ	chr16:75283976-75285892	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:75284182-75285121	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr16:75283619-75284330	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr16:75283999-75284547	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr16:75283927-75284813	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr16:75282611-75286449	HUVEC	blood vessel:	n/a	n/a
28	SIN3AK20	chr16:75284205-75284422	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:75284039-75285964	MCF-7	breast:	n/a	n/a
30	MXI1	chr16:75282706-75286188	IMR90	lung:	n/a	n/a
31	POLR2A	chr16:75284147-75285653	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:75283898-75286057	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr16:75284195-75284652	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:75284166-75286363	HepG2	liver:	n/a	n/a
35	TAF1	chr16:75284227-75284524	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr16:75283885-75285933	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr16:75284192-75284442	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr16:75284200-75284350	GM06990	blood:	n/a	n/a
39	POLR2A	chr16:75282692-75286211	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr16:75283642-75285711	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr16:75280180-75288779	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:75283830-75285939	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr16:75283608-75286774	HepG2	liver:	n/a	n/a
44	MAZ	chr16:75281437-75286746	IMR90	lung:	n/a	chr16:75282710-75282719
45	MYBL2	chr16:75284168-75285186	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75282816..75286451-chr16:75415036..75419347,4	MCF-7	breast:
2	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
3	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
4	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:
5	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
6	chr16:75283733..75286666-chr17:57922628..57925329,2	MCF-7	breast:
7	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
8	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
9	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
10	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
11	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000168928	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000261783	Chromatin interaction
ENSG00000065427	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11647214	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12932495	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1469121	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35091778	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784938	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888367	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv978002	chr16:75274402-75288324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	esv3409818	chr16:75283676-75286424	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	n/a
21	esv3379520	chr16:75284006-75284425	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75277600-75284400	Enhancers	Fetal Lung	lung
2	chr16:75278200-75284800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr16:75279000-75284600	Enhancers	Fetal Heart	heart
4	chr16:75280000-75284400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:75280000-75284600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:75280800-75284400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:75281200-75284800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:75281400-75284600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr16:75282200-75284400	Flanking Active TSS	HMEC	breast
10	chr16:75282200-75284600	Flanking Active TSS	Colonic Mucosa	Colon
11	chr16:75282200-75284800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr16:75282400-75284400	Weak transcription	K562	blood
13	chr16:75283000-75284400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:75283200-75284800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr16:75283200-75285000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr16:75283200-75285400	Active TSS	HSMMtube	muscle
17	chr16:75283400-75284600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:75283400-75284600	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr16:75283600-75284400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:75283600-75284400	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr16:75283600-75284600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:75283600-75284600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr16:75283600-75284600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr16:75283600-75285400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:75283600-75286200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr16:75283800-75284400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr16:75283800-75284400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr16:75283800-75284400	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr16:75283800-75284600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:75283800-75284600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr16:75283800-75284600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr16:75283800-75284600	Flanking Active TSS	Ovary	ovary
33	chr16:75283800-75284800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:75283800-75285000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr16:75283800-75285200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:75283800-75285200	Active TSS	Fetal Kidney	kidney
37	chr16:75283800-75285800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr16:75283800-75285800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:75283800-75285800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr16:75284000-75284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:75284000-75284400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr16:75284000-75284400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr16:75284000-75284400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:75284000-75284400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:75284000-75284400	Flanking Active TSS	Right Atrium	heart
46	chr16:75284000-75284400	Flanking Active TSS	NHEK	skin
47	chr16:75284000-75284600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:75284000-75284600	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr16:75284000-75284600	Flanking Active TSS	Placenta	Placenta
50	chr16:75284000-75284600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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