Variant report

Variant	rs58693542
Chromosome Location	chr16:31881575-31881576
allele	A/C
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	MYC	chr16:31880806-31881591	NB4	blood:	n/a	chr16:31881381-31881391 chr16:31881003-31881010 chr16:31881002-31881011 chr16:31881002-31881013
2	SPI1	chr16:31880635-31881703	HL-60	blood:	n/a	chr16:31881071-31881078 chr16:31880860-31880873 chr16:31881512-31881521 chr16:31880903-31880910 chr16:31881510-31881523 chr16:31881461-31881474 chr16:31881511-31881524

No.	Distal block	Cell Line	Cell type
1	chr16:31723093..31725658-chr16:31880416..31882671,2	MCF-7	breast:
2	chr16:31469205..31472299-chr16:31879583..31882157,3	MCF-7	breast:
3	chr16:31880244..31883180-chr16:31883770..31886607,4	K562	blood:
4	chr16:31878665..31883270-chr16:31884134..31887533,7	K562	blood:
5	chr16:31481310..31483531-chr16:31880897..31883874,2	MCF-7	breast:

Variant related genes	Relation type
ZNF267	TF binding region
ENSG00000185947	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000197302	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28784931	1.00[EUR][1000 genomes]
rs28803931	1.00[EUR][1000 genomes]
rs28845565	1.00[EUR][1000 genomes]
rs28847575	1.00[EUR][1000 genomes]
rs28855454	1.00[EUR][1000 genomes]
rs28870502	1.00[EUR][1000 genomes]
rs28874939	1.00[EUR][1000 genomes]
rs7205954	1.00[EUR][1000 genomes]
rs7339438	1.00[EUR][1000 genomes]
rs7339445	1.00[EUR][1000 genomes]
rs73526430	1.00[EUR][1000 genomes]
rs73526472	1.00[EUR][1000 genomes]
rs74017544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017550	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017570	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3446880	chr16:31734687-31891223	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1066522	chr16:31831196-31959992	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1057300	chr16:31862900-31959992	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31879800-31882200	Enhancers	Primary B cells from peripheral blood	blood
2	chr16:31880000-31881600	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr16:31880000-31881600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:31880000-31881800	Enhancers	Fetal Thymus	thymus
5	chr16:31880000-31882000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr16:31880000-31882000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:31880000-31882400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr16:31880200-31881600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:31880200-31881600	Enhancers	HMEC	breast
10	chr16:31880400-31881600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:31880400-31882000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:31880400-31883400	Weak transcription	Placenta	Placenta
13	chr16:31880400-31884400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr16:31880400-31884400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:31880400-31884400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:31880400-31884400	Weak transcription	Spleen	Spleen
17	chr16:31880400-31884600	Weak transcription	Liver	Liver
18	chr16:31880400-31884600	Weak transcription	Colonic Mucosa	Colon
19	chr16:31880400-31884600	Weak transcription	Right Atrium	heart
20	chr16:31880400-31884800	Weak transcription	Aorta	Aorta
21	chr16:31880600-31881600	Enhancers	Osteobl	bone
22	chr16:31880600-31882400	Enhancers	HUVEC	blood vessel
23	chr16:31880600-31883000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:31880600-31884400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:31880600-31884400	Weak transcription	Brain Angular Gyrus	brain
26	chr16:31880600-31884400	Weak transcription	Brain Anterior Caudate	brain
27	chr16:31880600-31884400	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:31880600-31884400	Weak transcription	Brain Substantia Nigra	brain
29	chr16:31880600-31884400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:31880600-31884600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr16:31880600-31884600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr16:31880600-31884600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr16:31880600-31884600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:31880600-31884600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:31880600-31884600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:31880600-31884600	Weak transcription	K562	blood
37	chr16:31880800-31881800	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr16:31880800-31884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:31880800-31884600	Weak transcription	Fetal Heart	heart
40	chr16:31881000-31881600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:31881000-31881600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr16:31881000-31882000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr16:31881200-31881600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:31881200-31881600	Enhancers	Dnd41	blood
45	chr16:31881200-31882600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr16:31881200-31884400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:31881200-31884400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr16:31881200-31884400	Weak transcription	Hela-S3	cervix
49	chr16:31881200-31884600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:31881200-31884600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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