Variant report

Variant	rs1549299
Chromosome Location	chr16:31154146-31154147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:31153631-31154401	HUVEC	blood vessel:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
2	E2F6	chr16:31153641-31154474	K562	blood:	n/a	chr16:31154458-31154467
3	MYC	chr16:31153050-31154201	K562	blood:	n/a	n/a
4	HA-E2F1	chr16:31153192-31154459	MCF-7	breast:	n/a	n/a
5	POLR2A	chr16:31153147-31154264	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr16:31153840-31154181	MCF-7	breast:	n/a	n/a
7	ZMIZ1	chr16:31153102-31154154	K562	blood:	n/a	n/a
8	RAD21	chr16:31153569-31154168	A549	lung:	n/a	n/a
9	RAD21	chr16:31153417-31154153	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:31153312-31154156	GM19099	blood:	n/a	n/a
11	POLR2A	chr16:31153764-31154391	A549	lung:	n/a	n/a
12	MYC	chr16:31153092-31154268	NB4	blood:	n/a	n/a
13	BCLAF1	chr16:31153574-31154147	K562	blood:	n/a	chr16:31153989-31154002 chr16:31153581-31153590
14	MAX	chr16:31152938-31154207	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr16:31153752-31154185	ECC-1	luminal epithelium:	n/a	n/a
16	MYC	chr16:31153000-31154217	K562	blood:	n/a	n/a
17	MAX	chr16:31153432-31154601	H1-hESC	embryonic stem cell:	n/a	chr16:31154353-31154362 chr16:31154335-31154344 chr16:31154562-31154572
18	E2F6	chr16:31153570-31154742	H1-hESC	embryonic stem cell:	n/a	chr16:31154458-31154467 chr16:31154558-31154567
19	POLR2A	chr16:31153401-31154146	K562	blood:	n/a	n/a
20	MYC	chr16:31153729-31154225	HUVEC	blood vessel:	n/a	n/a
21	E2F6	chr16:31153682-31154623	H1-hESC	embryonic stem cell:	n/a	chr16:31154458-31154467 chr16:31154558-31154567
22	UBTF	chr16:31153763-31154200	K562	blood:	n/a	n/a
23	POLR2A	chr16:31153305-31154168	K562	blood:	n/a	n/a
24	USF2	chr16:31153689-31154223	H1-hESC	embryonic stem cell:	n/a	chr16:31154021-31154037 chr16:31154012-31154028
25	MAZ	chr16:31152704-31154507	IMR90	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
26	POLR2A	chr16:31153354-31154242	GM18951	blood:	n/a	n/a
27	FOXM1	chr16:31153330-31154192	GM12878	blood:	n/a	n/a
28	CTCF	chr16:31153622-31154351	A549	lung:	n/a	n/a
29	MAX	chr16:31152801-31154476	K562	blood:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
30	CTCF	chr16:31153628-31154147	GM12878	blood:	n/a	n/a
31	MYBL2	chr16:31152721-31154160	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr16:31153578-31154180	PANC-1	pancreas:	n/a	n/a
33	SMARCC1	chr16:31153098-31155051	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr16:31153800-31154282	A549	lung:	n/a	n/a
35	CTCF	chr16:31154138-31154147	GM19240	blood:	n/a	n/a
36	RAD21	chr16:31153327-31154224	HCT-116	colon:	n/a	n/a
37	MXI1	chr16:31153445-31154197	GM12878	blood:	n/a	n/a
38	SIN3A	chr16:31153292-31154268	H1-hESC	embryonic stem cell:	n/a	chr16:31154030-31154043
39	MYC	chr16:31154103-31154218	MCF-7	breast:	n/a	n/a
40	E2F6	chr16:31153423-31154448	K562	blood:	n/a	n/a
41	MXI1	chr16:31152890-31154498	SK-N-SH	brain:	n/a	chr16:31154354-31154363
42	RAD21	chr16:31153415-31154207	MCF-7	breast:	n/a	n/a
43	SMC3	chr16:31152940-31154788	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr16:31152937-31154359	SK-N-SH	brain:	n/a	n/a
45	MAX	chr16:31153039-31154563	A549	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
46	POLR2A	chr16:31153365-31154210	HCT-116	colon:	n/a	n/a
47	E2F1	chr16:31153560-31154273	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr16:31152961-31154430	HepG2	liver:	n/a	chr16:31154354-31154363
49	MYC	chr16:31153364-31154430	A549	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
50	ELF1	chr16:31153085-31154173	HepG2	liver:	n/a	chr16:31154028-31154040

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31152927..31156733-chr16:31157447..31161176,6	MCF-7	breast:
2	chr16:30968166..30970668-chr16:31152878..31154603,2	MCF-7	breast:
3	chr16:31105856..31107685-chr16:31152830..31155240,2	MCF-7	breast:
4	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
5	chr16:31044131..31046037-chr16:31153461..31155105,2	K562	blood:
6	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
7	chr16:31128280..31129161-chr16:31153696..31154318,2	MCF-7	breast:
8	chr16:31104000..31106191-chr16:31152891..31155014,2	K562	blood:
9	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
10	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
11	chr16:31008117..31009690-chr16:31151800..31154471,2	K562	blood:
12	chr16:31146490..31149050-chr16:31153299..31154926,2	K562	blood:
13	chr16:30996063..30997026-chr16:31153408..31154337,7	K562	blood:
14	chr16:31128897..31129595-chr16:31153311..31154293,4	MCF-7	breast:
15	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:
16	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
17	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
18	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
19	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
20	chr16:31118165..31121962-chr16:31151611..31155077,5	K562	blood:
21	chr16:31008133..31009095-chr16:31153695..31154390,2	K562	blood:
22	chr16:31105721..31106667-chr16:31153756..31154617,2	K562	blood:
23	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
24	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
25	chr16:31084138..31086184-chr16:31153280..31154871,2	K562	blood:
26	chr16:31116671..31117702-chr16:31153398..31154356,8	MCF-7	breast:
27	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:
28	chr16:31084133..31085236-chr16:31153737..31154390,3	K562	blood:

No data

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000175938	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103507	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1060506	0.87[EUR][1000 genomes]
rs11865499	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28725459	0.87[EUR][1000 genomes]
rs2884738	0.82[EUR][1000 genomes]
rs55667375	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59735493	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60996860	0.81[EUR][1000 genomes]
rs61320757	0.82[EUR][1000 genomes]
rs889555	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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 miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
14	esv3341967	chr16:31152676-31155224	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1549299	MYST1	Cis_1M	lymphoblastoid	RTeQTL
rs1549299	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs1549299	KAT8	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31147400-31154800	Enhancers	Placenta	Placenta
2	chr16:31151400-31154600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr16:31152000-31154600	Enhancers	Fetal Heart	heart
4	chr16:31152600-31154600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:31152800-31154600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:31153000-31154200	Active TSS	Brain Germinal Matrix	brain
7	chr16:31153000-31154600	Enhancers	Fetal Brain Male	brain
8	chr16:31153000-31154800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:31153200-31154200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:31153200-31154200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr16:31153200-31154200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:31153200-31154400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:31153200-31154400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:31153400-31154200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:31153400-31154200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:31153400-31154200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr16:31153400-31154200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:31153400-31154200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:31153400-31154200	Active TSS	Primary T cells from cord blood	blood
20	chr16:31153400-31154200	Active TSS	Brain Angular Gyrus	brain
21	chr16:31153400-31154200	Active TSS	Brain Cingulate Gyrus	brain
22	chr16:31153400-31154200	Active TSS	Brain Hippocampus Middle	brain
23	chr16:31153400-31154200	Active TSS	Duodenum Mucosa	Duodenum
24	chr16:31153400-31154200	Active TSS	Fetal Stomach	stomach
25	chr16:31153400-31154200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr16:31153400-31154200	Active TSS	Hela-S3	cervix
27	chr16:31153400-31154200	Active TSS	K562	blood
28	chr16:31153400-31154200	Active TSS	NH-A	brain
29	chr16:31153400-31154200	Active TSS	NHLF	lung
30	chr16:31153400-31154200	Active TSS	Osteobl	bone
31	chr16:31153400-31154400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:31153400-31154400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:31153400-31154400	Active TSS	Brain Substantia Nigra	brain
34	chr16:31153400-31154400	Active TSS	Colon Smooth Muscle	Colon
35	chr16:31153400-31154400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr16:31153400-31154400	Active TSS	Rectal Smooth Muscle	rectum
37	chr16:31153400-31154400	Active TSS	HSMM	muscle
38	chr16:31153400-31154400	Active TSS	HSMMtube	muscle
39	chr16:31153400-31154600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:31153400-31154600	Active TSS	Brain Anterior Caudate	brain
41	chr16:31153400-31154600	Active TSS	Fetal Brain Female	brain
42	chr16:31153600-31154200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:31153600-31154200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:31153600-31154200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr16:31153600-31154200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr16:31153600-31154200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr16:31153600-31154200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:31153600-31154200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr16:31153600-31154200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:31153600-31154200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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