Variant report

Variant	rs568390675
Chromosome Location	chr16:46917777-46917778
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	ATF3	chr16:46917639-46917984	A549	lung:	n/a	n/a
2	CREB1	chr16:46917659-46918420	K562	blood:	n/a	n/a
3	POLR2A	chr16:46917632-46918602	Gliobla	brain:	n/a	n/a
4	POLR2A	chr16:46916251-46918645	HepG2	liver:	n/a	n/a
5	CREB1	chr16:46917657-46918509	A549	lung:	n/a	n/a
6	CEBPB	chr16:46917668-46918270	HepG2	liver:	n/a	n/a
7	MAX	chr16:46917604-46918591	SK-N-SH	brain:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
8	MYC	chr16:46917100-46919226	NB4	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
9	TCF12	chr16:46917438-46918128	A549	lung:	n/a	chr16:46917923-46917930
10	POLR2A	chr16:46917501-46918557	GM15510	blood:	n/a	n/a
11	RCOR1	chr16:46917668-46918334	K562	blood:	n/a	n/a
12	SP1	chr16:46917639-46918421	A549	lung:	n/a	chr16:46918021-46918035 chr16:46918020-46918032 chr16:46918021-46918031 chr16:46918021-46918030 chr16:46917946-46917957 chr16:46918022-46918031 chr16:46918021-46918030 chr16:46918020-46918032 chr16:46918021-46918031
13	POLR2A	chr16:46917540-46918602	Raji	blood:	n/a	n/a
14	CEBPB	chr16:46917713-46918021	K562	blood:	n/a	n/a
15	MAX	chr16:46917697-46918364	Hela-S3	cervix:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
16	POLR2A	chr16:46917470-46919162	MCF-7	breast:	n/a	n/a
17	POLR2A	chr16:46917726-46918121	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:46917545-46918112	U87	brain:	n/a	n/a
19	MYC	chr16:46917593-46918468	K562	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
20	MYC	chr16:46917499-46918356	HepG2	liver:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
21	CEBPB	chr16:46917552-46918125	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr16:46917215-46918605	ECC-1	luminal epithelium:	n/a	n/a
23	MYBL2	chr16:46916124-46918353	HepG2	liver:	n/a	n/a
24	MAX	chr16:46917416-46918439	HepG2	liver:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
25	MYC	chr16:46917768-46918284	K562	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
26	EP300	chr16:46917587-46919168	ECC-1	luminal epithelium:	n/a	chr16:46918582-46918596 chr16:46918215-46918231 chr16:46918127-46918143
27	JUND	chr16:46917701-46918072	H1-hESC	embryonic stem cell:	n/a	n/a
28	HNF4A	chr16:46917650-46918281	HepG2	liver:	n/a	n/a
29	MAX	chr16:46917631-46918748	MCF-7	breast:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
30	ATF3	chr16:46917665-46918009	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUN	chr16:46917084-46919265	K562	blood:	n/a	n/a
32	POLR2A	chr16:46917611-46918085	H1-hESC	embryonic stem cell:	n/a	n/a
33	MXI1	chr16:46917369-46918508	HepG2	liver:	n/a	n/a
34	MXI1	chr16:46917618-46919470	IMR90	lung:	n/a	n/a
35	EBF1	chr16:46917647-46918653	GM12878	blood:	n/a	n/a
36	MYC	chr16:46917636-46918927	MCF-7	breast:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
37	SP1	chr16:46917623-46918389	A549	lung:	n/a	chr16:46918021-46918035 chr16:46918020-46918032 chr16:46918021-46918031 chr16:46918021-46918030 chr16:46917946-46917957 chr16:46918022-46918031 chr16:46918021-46918030 chr16:46918020-46918032 chr16:46918021-46918031
38	TAF1	chr16:46917633-46918597	ECC-1	luminal epithelium:	n/a	n/a
39	MAZ	chr16:46917402-46918567	IMR90	lung:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
40	YY1	chr16:46917698-46918556	ECC-1	luminal epithelium:	n/a	chr16:46918067-46918078 chr16:46918167-46918178 chr16:46918014-46918025 chr16:46918301-46918315
41	POLR2A	chr16:46917634-46918548	A549	lung:	n/a	n/a
42	POLR2A	chr16:46917631-46918557	ProgFib	skin:	n/a	n/a
43	POLR2A	chr16:46917290-46918678	H1-hESC	embryonic stem cell:	n/a	n/a
44	BHLHE40	chr16:46917467-46918273	HepG2	liver:	n/a	n/a
45	E2F6	chr16:46917762-46918575	K562	blood:	n/a	chr16:46918095-46918106
46	RUNX3	chr16:46917487-46918028	GM12878	blood:	n/a	n/a
47	TEAD4	chr16:46917090-46918195	HepG2	liver:	n/a	n/a
48	POLR2A	chr16:46917759-46918491	Hela-S3	cervix:	n/a	n/a
49	SIN3A	chr16:46917749-46918964	H1-hESC	embryonic stem cell:	n/a	chr16:46918067-46918078 chr16:46918903-46918916 chr16:46918065-46918078 chr16:46918298-46918309
50	POLR2A	chr16:46917627-46918081	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46917473..46918075-chr17:77812758..77813708,2	HCT-116	colon:
2	chr16:46916414..46917983-chr16:46954082..46956744,2	K562	blood:
3	chr16:46917387..46917972-chr8:38265324..38266247,2	Hela-S3	cervix:
4	chr16:46822185..46825488-chr16:46917726..46919426,3	K562	blood:
5	chr16:46895641..46897768-chr16:46916063..46918079,2	K562	blood:
6	chr16:46917403..46918059-chr9:134131479..134132405,2	Hela-S3	cervix:
7	chr16:46916007..46917928-chr16:46919979..46921962,2	MCF-7	breast:
8	chr16:46898009..46901625-chr16:46916085..46918224,4	MCF-7	breast:

Variant related genes	Relation type
GPT2	TF binding region
ENSG00000260782	Chromatin interaction
ENSG00000141582	Chromatin interaction
ENSG00000140795	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS 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	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3326361	chr16:46917676-46920224	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46917000-46917800	Flanking Active TSS	NHEK	skin
2	chr16:46917200-46917800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:46917200-46917800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr16:46917200-46917800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr16:46917200-46917800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:46917200-46917800	Flanking Active TSS	Fetal Heart	heart
7	chr16:46917200-46917800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr16:46917200-46918000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr16:46917200-46918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:46917200-46918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:46917200-46918000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr16:46917200-46918000	Flanking Active TSS	HMEC	breast
13	chr16:46917200-46918000	Flanking Active TSS	K562	blood
14	chr16:46917200-46918000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr16:46917200-46919000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr16:46917200-46919000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:46917200-46919400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:46917200-46919400	Active TSS	Liver	Liver
19	chr16:46917200-46919600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr16:46917200-46919800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:46917200-46920800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:46917200-46921200	Active TSS	Pancreas	Pancrea
23	chr16:46917400-46917800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr16:46917400-46917800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:46917400-46917800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:46917400-46917800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr16:46917400-46917800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr16:46917400-46917800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr16:46917400-46917800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr16:46917400-46917800	Flanking Active TSS	Placenta	Placenta
31	chr16:46917400-46917800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr16:46917400-46917800	Flanking Active TSS	Left Ventricle	heart
33	chr16:46917400-46917800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr16:46917400-46917800	Flanking Active TSS	Hela-S3	cervix
35	chr16:46917400-46917800	Flanking Active TSS	HSMM	muscle
36	chr16:46917400-46917800	Flanking Active TSS	HSMMtube	muscle
37	chr16:46917400-46917800	Flanking Active TSS	HUVEC	blood vessel
38	chr16:46917400-46917800	Flanking Active TSS	NH-A	brain
39	chr16:46917400-46917800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr16:46917400-46918000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr16:46917400-46918000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr16:46917400-46918000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr16:46917400-46918000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr16:46917400-46918000	Flanking Active TSS	GM12878-XiMat	blood
49	chr16:46917400-46918200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:46917400-46918600	Active TSS	Right Ventricle	heart

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