Variant report

Variant	rs73550821
Chromosome Location	chr16:58766929-58766930
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	MTA3	chr16:58766372-58768559	GM12878	blood:	n/a	n/a
2	EBF1	chr16:58766436-58767005	GM12878	blood:	n/a	chr16:58766612-58766623 chr16:58766614-58766623
3	BHLHE40	chr16:58766417-58766975	GM12878	blood:	n/a	n/a
4	SPI1	chr16:58766844-58767148	GM12891	blood:	n/a	n/a
5	EBF1	chr16:58766393-58767006	GM12878	blood:	n/a	chr16:58766612-58766623 chr16:58766614-58766623
6	POLR2A	chr16:58766620-58768545	GM12878	blood:	n/a	n/a
7	ZNF263	chr16:58766744-58768537	HEK293-T-REx	kidney:	n/a	chr16:58768320-58768341
8	CHD1	chr16:58766403-58768676	IMR90	lung:	n/a	n/a
9	MAZ	chr16:58766668-58768566	IMR90	lung:	n/a	n/a
10	PML	chr16:58766345-58767212	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:58766677-58768579	GM12892	blood:	n/a	n/a
12	FOS	chr16:58766389-58767201	MCF10A-Er-Src	breast:	n/a	chr16:58766572-58766583 chr16:58767020-58767029 chr16:58766598-58766609
13	CTCF	chr16:58766744-58768693	A549	lung:	n/a	chr16:58768293-58768306 chr16:58766789-58766796
14	POLR2A	chr16:58766541-58768567	GM12891	blood:	n/a	n/a
15	TBP	chr16:58766319-58766994	GM12878	blood:	n/a	n/a
16	STAT3	chr16:58766313-58766946	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:58766845-58767244	HepG2	liver:	n/a	n/a
18	STAT1	chr16:58766673-58767089	GM12878	blood:	n/a	n/a
19	FOS	chr16:58766365-58767268	HUVEC	blood vessel:	n/a	chr16:58766572-58766583 chr16:58767020-58767029 chr16:58766598-58766609
20	POLR2A	chr16:58766907-58768534	MCF10A-Er-Src	breast:	n/a	n/a
21	ELF1	chr16:58766705-58766965	K562	blood:	n/a	chr16:58766842-58766855
22	HCFC1	chr16:58766390-58768698	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:58766717-58767499	GM12878	blood:	n/a	n/a
24	MXI1	chr16:58766843-58768634	SK-N-SH	brain:	n/a	chr16:58767545-58767560
25	ZC3H11A	chr16:58766806-58766988	K562	blood:	n/a	n/a
26	NFIC	chr16:58766343-58767099	GM12878	blood:	n/a	n/a
27	STAT3	chr16:58766784-58767204	GM12878	blood:	n/a	chr16:58767196-58767204
28	EBF1	chr16:58766099-58767314	GM12878	blood:	n/a	chr16:58766612-58766623 chr16:58766614-58766623
29	CHD1	chr16:58766596-58767485	GM12878	blood:	n/a	n/a
30	MXI1	chr16:58766389-58768625	IMR90	lung:	n/a	chr16:58767545-58767560

No.	Distal block	Cell Line	Cell type
1	chr16:58663099..58664824-chr16:58766372..58767972,2	K562	blood:
2	chr16:58717131..58719457-chr16:58766765..58768365,2	K562	blood:
3	chr16:58662850..58664824-chr16:58766472..58768052,2	K562	blood:
4	chr16:58521363..58523239-chr16:58765516..58767587,2	K562	blood:
5	chr16:58763681..58765319-chr16:58765617..58767662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245768	TF binding region
ENSG00000125107	Chromatin interaction
ENSG00000103042	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334184	0.83[AMR][1000 genomes]
rs13334217	0.83[AMR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335851	1.00[EUR][1000 genomes]
rs13335953	1.00[EUR][1000 genomes]
rs13337650	1.00[EUR][1000 genomes]
rs13338403	0.83[AMR][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	1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	1.00[EUR][1000 genomes]
rs28644182	1.00[EUR][1000 genomes]
rs28714090	0.91[AFR][1000 genomes]
rs28744389	1.00[EUR][1000 genomes]
rs28758631	0.83[AMR][1000 genomes]
rs34698978	1.00[EUR][1000 genomes]
rs7186446	1.00[EUR][1000 genomes]
rs7193580	1.00[EUR][1000 genomes]
rs727483	0.83[AMR][1000 genomes]
rs73550817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550866	0.83[AMR][1000 genomes]
rs8048686	1.00[EUR][1000 genomes]
rs8060056	0.94[AFR][1000 genomes]
rs9746055	1.00[EUR][1000 genomes]
rs9922224	0.83[AMR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9923914	0.95[AFR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9928525	0.83[AMR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9933939	0.83[AMR][1000 genomes]
rs9938192	1.00[EUR][1000 genomes]
rs9938386	1.00[EUR][1000 genomes]
rs9941013	1.00[EUR][1000 genomes]
rs9941175	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	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr16:58747800-58767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:58757000-58767400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:58757600-58767000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:58757800-58767000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:58758000-58767000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:58759000-58767200	Weak transcription	Lung	lung
7	chr16:58764200-58767200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:58764200-58767200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr16:58764200-58767800	Flanking Active TSS	Liver	Liver
10	chr16:58764400-58767000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr16:58765600-58767000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr16:58765600-58767200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:58765800-58767400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr16:58765800-58768600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr16:58766000-58767400	Flanking Active TSS	NHEK	skin
16	chr16:58766200-58767000	Enhancers	Primary T cells from cord blood	blood
17	chr16:58766200-58767200	Flanking Active TSS	Fetal Heart	heart
18	chr16:58766200-58767400	Flanking Active TSS	Dnd41	blood
19	chr16:58766200-58767400	Flanking Active TSS	HUVEC	blood vessel
20	chr16:58766200-58767600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:58766400-58767000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:58766400-58767200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:58766400-58767200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr16:58766400-58767200	Flanking Active TSS	NH-A	brain
25	chr16:58766400-58767400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr16:58766400-58767400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr16:58766400-58768200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:58766600-58767000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:58766600-58767000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:58766600-58767000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr16:58766600-58767000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr16:58766600-58767000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr16:58766600-58767000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr16:58766600-58767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:58766600-58767000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr16:58766600-58767000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:58766600-58767000	Enhancers	Colon Smooth Muscle	Colon
38	chr16:58766600-58767000	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr16:58766600-58767000	Enhancers	Fetal Kidney	kidney
40	chr16:58766600-58767000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr16:58766600-58767000	Enhancers	Fetal Stomach	stomach
42	chr16:58766600-58767000	Enhancers	Ovary	ovary
43	chr16:58766600-58767000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr16:58766600-58767000	Enhancers	Stomach Mucosa	stomach
45	chr16:58766600-58767000	Enhancers	Thymus	Thymus
46	chr16:58766600-58767000	Transcr. at gene 5' and 3'	A549	lung
47	chr16:58766600-58767000	Flanking Active TSS	HepG2	liver
48	chr16:58766600-58767000	Flanking Active TSS	NHLF	lung
49	chr16:58766600-58767200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr16:58766600-58767200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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