Variant report

Variant	rs577240699
Chromosome Location	chr16:31153337-31153338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr16:31153244-31154083	K562	blood:	n/a	chr16:31153578-31153592 chr16:31153539-31153553
2	BHLHE40	chr16:31153229-31154083	HepG2	liver:	n/a	chr16:31154021-31154037 chr16:31154012-31154028
3	MYC	chr16:31153050-31154201	K562	blood:	n/a	n/a
4	STAT3	chr16:31153239-31153966	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT5A	chr16:31153152-31153879	GM12878	blood:	n/a	n/a
6	HA-E2F1	chr16:31153192-31154459	MCF-7	breast:	n/a	n/a
7	POLR2A	chr16:31153147-31154264	HUVEC	blood vessel:	n/a	n/a
8	GTF2F1	chr16:31153166-31153960	Hela-S3	cervix:	n/a	n/a
9	ZMIZ1	chr16:31153102-31154154	K562	blood:	n/a	n/a
10	HEY1	chr16:31153307-31153628	K562	blood:	n/a	n/a
11	TBP	chr16:31153167-31153917	HepG2	liver:	n/a	n/a
12	ARID3A	chr16:31153267-31154009	HepG2	liver:	n/a	n/a
13	SP1	chr16:31153260-31154121	H1-hESC	embryonic stem cell:	n/a	chr16:31153580-31153592 chr16:31153693-31153704 chr16:31153581-31153590 chr16:31153580-31153592 chr16:31153542-31153552 chr16:31153542-31153556 chr16:31153543-31153552 chr16:31153542-31153552 chr16:31153541-31153553 chr16:31153542-31153551 chr16:31153564-31153578 chr16:31153541-31153553
14	POLR2A	chr16:31153312-31154156	GM19099	blood:	n/a	n/a
15	MYC	chr16:31153092-31154268	NB4	blood:	n/a	n/a
16	MXI1	chr16:31153101-31154027	Hela-S3	cervix:	n/a	n/a
17	MAX	chr16:31152938-31154207	Hela-S3	cervix:	n/a	n/a
18	MYC	chr16:31153000-31154217	K562	blood:	n/a	n/a
19	RCOR1	chr16:31153205-31154089	K562	blood:	n/a	n/a
20	MBD4	chr16:31153203-31153825	HepG2	liver:	n/a	n/a
21	ZC3H11A	chr16:31153196-31153390	K562	blood:	n/a	n/a
22	FOS	chr16:31153280-31153487	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr16:31153120-31153644	ECC-1	luminal epithelium:	n/a	n/a
24	RFX5	chr16:31153104-31153988	HepG2	liver:	n/a	n/a
25	USF2	chr16:31152842-31153375	HepG2	liver:	n/a	n/a
26	SMC3	chr16:31153114-31154118	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr16:31153305-31154168	K562	blood:	n/a	n/a
28	POLR2A	chr16:31153171-31153621	K562	blood:	n/a	n/a
29	REST	chr16:31153258-31153602	A549	lung:	n/a	chr16:31153542-31153555
30	MAZ	chr16:31152704-31154507	IMR90	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
31	PML	chr16:31153160-31154059	GM12878	blood:	n/a	chr16:31153478-31153486
32	POLR2A	chr16:31153297-31153705	GM12878	blood:	n/a	n/a
33	RCOR1	chr16:31153069-31153483	K562	blood:	n/a	n/a
34	FOXM1	chr16:31153330-31154192	GM12878	blood:	n/a	n/a
35	MYC	chr16:31153113-31154106	K562	blood:	n/a	n/a
36	MAX	chr16:31152801-31154476	K562	blood:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
37	ZNF263	chr16:31152979-31153403	HEK293-T-REx	kidney:	n/a	n/a
38	SPI1	chr16:31153306-31154127	HL-60	blood:	n/a	chr16:31153972-31153985
39	MYBL2	chr16:31152721-31154160	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:31153197-31153700	GM12892	blood:	n/a	n/a
41	RAD21	chr16:31153049-31154136	IMR90	lung:	n/a	n/a
42	POLR2A	chr16:31153240-31153683	SK-N-MC	brain:	n/a	n/a
43	SMARCC1	chr16:31153098-31155051	Hela-S3	cervix:	n/a	n/a
44	NR2F2	chr16:31153320-31154072	K562	blood:	n/a	n/a
45	RAD21	chr16:31153327-31154224	HCT-116	colon:	n/a	n/a
46	GTF2F1	chr16:31153258-31153491	K562	blood:	n/a	n/a
47	SIN3A	chr16:31153292-31154268	H1-hESC	embryonic stem cell:	n/a	chr16:31154030-31154043
48	POLR2A	chr16:31153216-31154093	Raji	blood:	n/a	n/a
49	MXI1	chr16:31152890-31154498	SK-N-SH	brain:	n/a	chr16:31154354-31154363
50	TBP	chr16:31153274-31154071	K562	blood:	n/a	n/a

No data

(count:26 , 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	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	chr16:31146490..31149050-chr16:31153299..31154926,2	K562	blood:
13	chr16:31128897..31129595-chr16:31153311..31154293,4	MCF-7	breast:
14	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:
15	chr16:30967863..30970213-chr16:31152160..31153690,2	K562	blood:
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	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
22	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
23	chr16:31084138..31086184-chr16:31153280..31154871,2	K562	blood:
24	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:
25	chr16:31128240..31128762-chr16:31153055..31153903,2	MCF-7	breast:
26	chr16:31041654..31043180-chr16:31152068..31153898,2	K562	blood:

No data

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000260304	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167397	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:31147400-31154800	Enhancers	Placenta	Placenta
4	chr16:31149400-31153600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:31149400-31153800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:31149400-31154000	Enhancers	Pancreas	Pancrea
7	chr16:31149400-31154000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr16:31150800-31153400	Enhancers	Stomach Mucosa	stomach
9	chr16:31151000-31154000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:31151400-31153600	Enhancers	Left Ventricle	heart
11	chr16:31151400-31153800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:31151400-31154000	Enhancers	Spleen	Spleen
13	chr16:31151400-31154600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr16:31152000-31153800	Enhancers	Gastric	stomach
15	chr16:31152000-31154600	Enhancers	Fetal Heart	heart
16	chr16:31152600-31153400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:31152600-31153400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr16:31152600-31153400	Flanking Active TSS	Hela-S3	cervix
19	chr16:31152600-31153600	Enhancers	Small Intestine	intestine
20	chr16:31152600-31154000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:31152600-31154600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:31152800-31153400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr16:31152800-31153400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:31152800-31153400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:31152800-31153400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:31152800-31153400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:31152800-31153400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr16:31152800-31153400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:31152800-31153400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:31152800-31153400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:31152800-31153400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr16:31152800-31153400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr16:31152800-31153400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr16:31152800-31153400	Flanking Active TSS	Esophagus	oesophagus
35	chr16:31152800-31153400	Flanking Active TSS	Fetal Lung	lung
36	chr16:31152800-31153400	Flanking Active TSS	Fetal Stomach	stomach
37	chr16:31152800-31153400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr16:31152800-31153400	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr16:31152800-31153400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr16:31152800-31153400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr16:31152800-31153400	Flanking Active TSS	HMEC	breast
42	chr16:31152800-31153400	Flanking Active TSS	K562	blood
43	chr16:31152800-31153400	Flanking Active TSS	Osteobl	bone
44	chr16:31152800-31153600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:31152800-31153600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr16:31152800-31153600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:31152800-31153600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:31152800-31153600	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr16:31152800-31153600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr16:31152800-31153600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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