Variant report

Variant	rs1549300
Chromosome Location	chr16:31153105-31153106
allele	C/T
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	chr16:31153050-31154201	K562	blood:	n/a	n/a
2	POLR2A	chr16:31152938-31153164	HCT-116	colon:	n/a	n/a
3	MAX	chr16:31152966-31153190	HepG2	liver:	n/a	n/a
4	ZMIZ1	chr16:31153102-31154154	K562	blood:	n/a	n/a
5	MYC	chr16:31153092-31154268	NB4	blood:	n/a	n/a
6	MXI1	chr16:31153101-31154027	Hela-S3	cervix:	n/a	n/a
7	MAX	chr16:31152938-31154207	Hela-S3	cervix:	n/a	n/a
8	MYC	chr16:31153000-31154217	K562	blood:	n/a	n/a
9	RFX5	chr16:31153104-31153988	HepG2	liver:	n/a	n/a
10	USF2	chr16:31152842-31153375	HepG2	liver:	n/a	n/a
11	MAZ	chr16:31152704-31154507	IMR90	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
12	RCOR1	chr16:31153069-31153483	K562	blood:	n/a	n/a
13	MAX	chr16:31152801-31154476	K562	blood:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
14	ZNF263	chr16:31152979-31153403	HEK293-T-REx	kidney:	n/a	n/a
15	MYBL2	chr16:31152721-31154160	HepG2	liver:	n/a	n/a
16	RAD21	chr16:31153049-31154136	IMR90	lung:	n/a	n/a
17	SMARCC1	chr16:31153098-31155051	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr16:31152890-31154498	SK-N-SH	brain:	n/a	chr16:31154354-31154363
19	POLR2A	chr16:31152815-31153596	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:31153065-31153578	HepG2	liver:	n/a	n/a
21	SMC3	chr16:31152940-31154788	SK-N-SH	brain:	n/a	n/a
22	RAD21	chr16:31152937-31154359	SK-N-SH	brain:	n/a	n/a
23	MAX	chr16:31153039-31154563	A549	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
24	MXI1	chr16:31152961-31154430	HepG2	liver:	n/a	chr16:31154354-31154363
25	IRF1	chr16:31153100-31154113	K562	blood:	n/a	chr16:31153578-31153592 chr16:31153539-31153553
26	ELF1	chr16:31153085-31154173	HepG2	liver:	n/a	chr16:31154028-31154040
27	POLR2A	chr16:31153094-31153606	Hela-S3	cervix:	n/a	n/a
28	MAX	chr16:31153003-31154500	ECC-1	luminal epithelium:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
29	HCFC1	chr16:31152942-31154449	Hela-S3	cervix:	n/a	n/a
30	ELF1	chr16:31152857-31154392	GM12878	blood:	n/a	chr16:31154028-31154040
31	MXI1	chr16:31152844-31154612	IMR90	lung:	n/a	chr16:31154354-31154363
32	POLR2A	chr16:31152911-31153680	HepG2	liver:	n/a	n/a
33	RCOR1	chr16:31152963-31154070	Hela-S3	cervix:	n/a	n/a
34	MAX	chr16:31152967-31153369	ECC-1	luminal epithelium:	n/a	n/a
35	CBX3	chr16:31153036-31153462	K562	blood:	n/a	n/a
36	POLR2A	chr16:31152772-31154271	HepG2	liver:	n/a	n/a
37	USF1	chr16:31153032-31153194	SK-N-SH_RA	brain:	n/a	chr16:31153140-31153151
38	HEY1	chr16:31152736-31154222	HepG2	liver:	n/a	n/a
39	MAX	chr16:31152664-31154579	HepG2	liver:	n/a	chr16:31154353-31154362 chr16:31154335-31154344 chr16:31154562-31154572
40	USF1	chr16:31152974-31153253	HepG2	liver:	n/a	chr16:31153140-31153151
41	BRCA1	chr16:31153084-31153935	Hela-S3	cervix:	n/a	n/a
42	MAX	chr16:31152938-31154245	HCT-116	colon:	n/a	n/a
43	POLR2A	chr16:31153021-31153672	U87	brain:	n/a	n/a
44	MYC	chr16:31152997-31154040	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr16:31152859-31154677	A549	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344 chr16:31154562-31154572
46	MYC	chr16:31153070-31154202	K562	blood:	n/a	n/a
47	POLR2A	chr16:31152727-31154143	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr16:31153008-31154214	K562	blood:	n/a	n/a
49	USF1	chr16:31152918-31153283	K562	blood:	n/a	chr16:31153140-31153151
50	MAZ	chr16:31152973-31154007	HepG2	liver:	n/a	n/a

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	chr11:62608998..62609698-chr16:31153081..31153674,2	Hela-S3	cervix:
5	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
6	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
7	chr16:31147040..31149884-chr16:31151495..31154032,4	K562	blood:
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	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:
13	chr16:30967863..30970213-chr16:31152160..31153690,2	K562	blood:
14	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
15	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
16	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
17	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
18	chr16:31118165..31121962-chr16:31151611..31155077,5	K562	blood:
19	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
20	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
21	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:
22	chr16:31128240..31128762-chr16:31153055..31153903,2	MCF-7	breast:
23	chr16:31041654..31043180-chr16:31152068..31153898,2	K562	blood:

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000260304	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000052344	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10153181	1.00[EUR][1000 genomes]
rs11150605	1.00[EUR][1000 genomes]
rs11649138	1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs17878338	1.00[EUR][1000 genomes]
rs17878521	1.00[EUR][1000 genomes]
rs17883591	1.00[EUR][1000 genomes]
rs17886199	1.00[EUR][1000 genomes]
rs2032917	1.00[EUR][1000 genomes]
rs4435271	1.00[EUR][1000 genomes]
rs4889515	1.00[EUR][1000 genomes]
rs4889529	1.00[EUR][1000 genomes]
rs4889531	1.00[EUR][1000 genomes]
rs4889532	1.00[EUR][1000 genomes]
rs4889533	1.00[EUR][1000 genomes]
rs4889535	1.00[EUR][1000 genomes]
rs4889613	1.00[EUR][1000 genomes]
rs4889615	1.00[EUR][1000 genomes]
rs59645185	1.00[EUR][1000 genomes]
rs61747561	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565215	1.00[EUR][1000 genomes]
rs6565218	1.00[EUR][1000 genomes]
rs7184697	1.00[EUR][1000 genomes]
rs7194921	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs7405418	1.00[EUR][1000 genomes]
rs7499974	1.00[EUR][1000 genomes]
rs8045936	1.00[EUR][1000 genomes]
rs8056076	1.00[EUR][1000 genomes]
rs8057433	1.00[EUR][1000 genomes]
rs889550	1.00[EUR][1000 genomes]
rs889553	1.00[EUR][1000 genomes]
rs9924071	1.00[EUR][1000 genomes]
rs9925932	1.00[EUR][1000 genomes]
rs9926903	1.00[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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
5	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:31147400-31154800	Enhancers	Placenta	Placenta
10	chr16:31149400-31153600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:31149400-31153800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:31149400-31154000	Enhancers	Pancreas	Pancrea
13	chr16:31149400-31154000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr16:31149800-31153200	Enhancers	Lung	lung
15	chr16:31150800-31153400	Enhancers	Stomach Mucosa	stomach
16	chr16:31151000-31153200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:31151000-31154000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:31151400-31153600	Enhancers	Left Ventricle	heart
19	chr16:31151400-31153800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:31151400-31154000	Enhancers	Spleen	Spleen
21	chr16:31151400-31154600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr16:31151600-31153200	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr16:31151800-31153200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:31152000-31153800	Enhancers	Gastric	stomach
25	chr16:31152000-31154600	Enhancers	Fetal Heart	heart
26	chr16:31152600-31153200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:31152600-31153200	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:31152600-31153400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:31152600-31153400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr16:31152600-31153400	Flanking Active TSS	Hela-S3	cervix
31	chr16:31152600-31153600	Enhancers	Small Intestine	intestine
32	chr16:31152600-31154000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:31152600-31154600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:31152800-31153200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:31152800-31153200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr16:31152800-31153200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:31152800-31153200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:31152800-31153200	Enhancers	Primary B cells from cord blood	blood
39	chr16:31152800-31153200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr16:31152800-31153200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:31152800-31153200	Enhancers	Ovary	ovary
42	chr16:31152800-31153200	Enhancers	Right Atrium	heart
43	chr16:31152800-31153200	Enhancers	Thymus	Thymus
44	chr16:31152800-31153200	Enhancers	HUVEC	blood vessel
45	chr16:31152800-31153200	Enhancers	NH-A	brain
46	chr16:31152800-31153400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr16:31152800-31153400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:31152800-31153400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:31152800-31153400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:31152800-31153400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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