Variant report

Variant	rs115670543
Chromosome Location	chr16:81177930-81177931
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	SP1	chr16:81177196-81178301	HCT-116	colon:	n/a	chr16:81177655-81177669
2	GATA3	chr16:81177394-81178058	MCF-7	breast:	n/a	chr16:81177645-81177654 chr16:81177588-81177595 chr16:81177586-81177595
3	TCF7L2	chr16:81177885-81178059	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr16:81177503-81178089	MCF-7	breast:	n/a	n/a
5	TEAD4	chr16:81177385-81178296	HCT-116	colon:	n/a	n/a
6	JUND	chr16:81177369-81178151	MCF-7	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
7	CEBPB	chr16:81177405-81178293	HCT-116	colon:	n/a	n/a
8	FOS	chr16:81177449-81178102	MCF10A-Er-Src	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
9	SIN3AK20	chr16:81177350-81178229	MCF-7	breast:	n/a	n/a
10	CEBPB	chr16:81177379-81178318	MCF-7	breast:	n/a	n/a
11	GTF2F1	chr16:81177691-81177986	Hela-S3	cervix:	n/a	n/a
12	JUN	chr16:81177395-81177975	K562	blood:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
13	CEBPB	chr16:81177444-81178184	Hela-S3	cervix:	n/a	n/a
14	YY1	chr16:81177833-81178162	HCT-116	colon:	n/a	n/a
15	TEAD4	chr16:81177410-81178226	MCF-7	breast:	n/a	n/a
16	FOSL2	chr16:81177489-81178215	MCF-7	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
17	TCF7L2	chr16:81177481-81177935	MCF-7	breast:	n/a	n/a
18	FOSL2	chr16:81177400-81178102	MCF-7	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
19	NR2F2	chr16:81177292-81178316	MCF-7	breast:	n/a	n/a
20	HDAC2	chr16:81177398-81178154	MCF-7	breast:	n/a	chr16:81177587-81177596
21	TEAD4	chr16:81177379-81178221	HCT-116	colon:	n/a	n/a
22	EP300	chr16:81177415-81178096	MCF-7	breast:	n/a	n/a
23	SIN3AK20	chr16:81177271-81178340	MCF-7	breast:	n/a	n/a
24	TEAD4	chr16:81177711-81178103	HepG2	liver:	n/a	n/a
25	FOSL1	chr16:81177284-81178306	HCT-116	colon:	n/a	chr16:81177644-81177652 chr16:81177579-81177590 chr16:81177642-81177654
26	TEAD4	chr16:81177752-81178092	ECC-1	luminal epithelium:	n/a	n/a
27	GATA3	chr16:81177219-81178319	MCF-7	breast:	n/a	chr16:81177645-81177654 chr16:81177588-81177595 chr16:81177586-81177595
28	JUND	chr16:81177386-81178313	HCT-116	colon:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
29	CEBPB	chr16:81177423-81178286	MCF-7	breast:	n/a	n/a
30	SP1	chr16:81177376-81178303	HCT-116	colon:	n/a	chr16:81177655-81177669
31	CBX3	chr16:81177298-81178299	HCT-116	colon:	n/a	n/a
32	ZNF217	chr16:81177438-81178052	MCF-7	breast:	n/a	n/a
33	FOSL1	chr16:81177456-81178158	HCT-116	colon:	n/a	chr16:81177644-81177652 chr16:81177579-81177590 chr16:81177642-81177654
34	MYC	chr16:81177522-81178025	MCF10A-Er-Src	breast:	n/a	n/a
35	NR2F2	chr16:81177284-81178300	MCF-7	breast:	n/a	n/a
36	HDAC2	chr16:81177401-81178213	MCF-7	breast:	n/a	chr16:81177587-81177596
37	GATA3	chr16:81177148-81178436	MCF-7	breast:	n/a	chr16:81177645-81177654 chr16:81177588-81177595 chr16:81177586-81177595
38	EP300	chr16:81177466-81177935	Hela-S3	cervix:	n/a	n/a
39	FOS	chr16:81177473-81178072	MCF10A-Er-Src	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
40	STAT3	chr16:81177567-81178087	MCF10A-Er-Src	breast:	n/a	n/a
41	JUND	chr16:81177366-81178180	HCT-116	colon:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
42	FOS	chr16:81177467-81178061	MCF10A-Er-Src	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
43	POLR2A	chr16:81177826-81178098	HCT-116	colon:	n/a	n/a
44	MAX	chr16:81177404-81178224	MCF-7	breast:	n/a	n/a
45	CEBPB	chr16:81177354-81178428	HCT-116	colon:	n/a	n/a
46	STAT3	chr16:81177522-81178082	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr16:81177417-81178119	HCT-116	colon:	n/a	n/a
48	FOS	chr16:81177446-81178084	MCF10A-Er-Src	breast:	n/a	chr16:81177644-81177652 chr16:81177642-81177654
49	FOXM1	chr16:81177417-81178174	MCF-7	breast:	n/a	n/a
50	CBX3	chr16:81177278-81178302	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:
2	chr16:81177157..81179228-chr16:81223964..81225695,2	MCF-7	breast:
3	chr16:81177178..81179005-chr16:81180841..81182912,2	MCF-7	breast:
4	chr16:81068581..81070765-chr16:81177689..81179201,2	MCF-7	breast:

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
4	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv907007	chr16:81157521-81181423	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv978328	chr16:81166830-81197232	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv960376	chr16:81170217-81214783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1064742	chr16:81172662-81266841	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv431520	chr16:81172699-81258899	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv457570	chr16:81173030-81264597	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	nsv573348	chr16:81173030-81264597	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	nsv1056584	chr16:81177693-81266841	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv2762355	chr16:81177705-81187852	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
3	chr16:81167200-81181000	Enhancers	Placenta	Placenta
4	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:81171200-81206400	Weak transcription	Ovary	ovary
6	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
7	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81173400-81179800	Weak transcription	Adipose Nuclei	Adipose
10	chr16:81173600-81182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:81175200-81185200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:81175200-81185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:81175400-81185000	Weak transcription	Brain Hippocampus Middle	brain
14	chr16:81175400-81185000	Weak transcription	Brain Substantia Nigra	brain
15	chr16:81175400-81201600	Weak transcription	Left Ventricle	heart
16	chr16:81176400-81178600	Enhancers	HMEC	breast
17	chr16:81176600-81178600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:81176600-81178600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:81176600-81181800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:81177000-81189400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:81177600-81178000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:81177600-81178000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:81177600-81178000	Enhancers	A549	lung
24	chr16:81177600-81178000	Flanking Active TSS	NHEK	skin
25	chr16:81177800-81178000	Flanking Active TSS	Hela-S3	cervix

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