Variant report

Variant	rs542180351
Chromosome Location	chr16:46918121-46918122
allele	C/G
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	CTCFL	chr16:46918063-46918278	K562	blood:	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	ELF1	chr16:46917993-46918274	K562	blood:	n/a	n/a
5	POLR2A	chr16:46916251-46918645	HepG2	liver:	n/a	n/a
6	CREB1	chr16:46917657-46918509	A549	lung:	n/a	n/a
7	CEBPB	chr16:46917668-46918270	HepG2	liver:	n/a	n/a
8	MAX	chr16:46917604-46918591	SK-N-SH	brain:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
9	MYC	chr16:46917100-46919226	NB4	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
10	TCF12	chr16:46917438-46918128	A549	lung:	n/a	chr16:46917923-46917930
11	CTCF	chr16:46918080-46918230	HMEC	breast:	n/a	n/a
12	POLR2A	chr16:46917501-46918557	GM15510	blood:	n/a	n/a
13	RCOR1	chr16:46917668-46918334	K562	blood:	n/a	n/a
14	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
15	POLR2A	chr16:46917540-46918602	Raji	blood:	n/a	n/a
16	MAX	chr16:46917697-46918364	Hela-S3	cervix:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
17	POLR2A	chr16:46917470-46919162	MCF-7	breast:	n/a	n/a
18	POLR2A	chr16:46917726-46918121	GM12878	blood:	n/a	n/a
19	ZBTB7A	chr16:46917878-46918289	K562	blood:	n/a	n/a
20	MYC	chr16:46917593-46918468	K562	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
21	CTCF	chr16:46917980-46918130	HBMEC	blood vessel:	n/a	n/a
22	MYC	chr16:46917499-46918356	HepG2	liver:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
23	BHLHE40	chr16:46917933-46918311	GM12878	blood:	n/a	n/a
24	JUN	chr16:46918032-46918272	K562	blood:	n/a	n/a
25	ETS1	chr16:46917978-46918420	GM12878	blood:	n/a	chr16:46918144-46918157 chr16:46918196-46918209 chr16:46918145-46918158
26	CEBPB	chr16:46917552-46918125	ECC-1	luminal epithelium:	n/a	n/a
27	SP1	chr16:46917948-46918379	GM12878	blood:	n/a	chr16:46918021-46918035 chr16:46918020-46918032 chr16:46918021-46918031 chr16:46918021-46918030 chr16:46918022-46918031 chr16:46918021-46918030 chr16:46918020-46918032 chr16:46918021-46918031
28	POLR2A	chr16:46917215-46918605	ECC-1	luminal epithelium:	n/a	n/a
29	MYBL2	chr16:46916124-46918353	HepG2	liver:	n/a	n/a
30	FOXA1	chr16:46917834-46918262	T-47D	breast:	n/a	n/a
31	E2F4	chr16:46917806-46918716	K562	blood:	n/a	n/a
32	CTCF	chr16:46918120-46918270	HVMF	connective:	n/a	n/a
33	MAX	chr16:46917416-46918439	HepG2	liver:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
34	JUND	chr16:46918088-46918522	A549	lung:	n/a	n/a
35	CTCF	chr16:46918109-46918176	GM12892	blood:	n/a	n/a
36	MYC	chr16:46917768-46918284	K562	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
37	EP300	chr16:46917587-46919168	ECC-1	luminal epithelium:	n/a	chr16:46918582-46918596 chr16:46918215-46918231 chr16:46918127-46918143
38	HNF4A	chr16:46917650-46918281	HepG2	liver:	n/a	n/a
39	MAX	chr16:46917631-46918748	MCF-7	breast:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
40	JUN	chr16:46917084-46919265	K562	blood:	n/a	n/a
41	CTCF	chr16:46918060-46918210	GM06990	blood:	n/a	n/a
42	MXI1	chr16:46917369-46918508	HepG2	liver:	n/a	n/a
43	E2F6	chr16:46917939-46918419	K562	blood:	n/a	chr16:46918095-46918106
44	MXI1	chr16:46917618-46919470	IMR90	lung:	n/a	n/a
45	EBF1	chr16:46917647-46918653	GM12878	blood:	n/a	n/a
46	MYC	chr16:46917636-46918927	MCF-7	breast:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
47	CTCF	chr16:46918032-46918250	Lung_OC	lung:	n/a	n/a
48	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
49	TAF1	chr16:46917633-46918597	ECC-1	luminal epithelium:	n/a	n/a
50	MAZ	chr16:46917402-46918567	IMR90	lung:	n/a	chr16:46917871-46917880 chr16:46918074-46918084

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46822185..46825488-chr16:46917726..46919426,3	K562	blood:
2	chr16:46898009..46901625-chr16:46916085..46918224,4	MCF-7	breast:

Variant related genes	Relation type
GPT2	TF binding region
ENSG00000260782	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	chr16:46917200-46919000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46917200-46919000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:46917200-46919400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:46917200-46919400	Active TSS	Liver	Liver
5	chr16:46917200-46919600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr16:46917200-46919800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:46917200-46920800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr16:46917200-46921200	Active TSS	Pancreas	Pancrea
9	chr16:46917400-46918200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:46917400-46918600	Active TSS	Right Ventricle	heart
11	chr16:46917400-46918800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr16:46917400-46918800	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr16:46917400-46918800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:46917400-46918800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:46917400-46918800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr16:46917400-46918800	Active TSS	Psoas Muscle	Psoas
17	chr16:46917400-46918800	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:46917400-46919000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:46917400-46919000	Active TSS	Aorta	Aorta
20	chr16:46917400-46919000	Active TSS	Colon Smooth Muscle	Colon
21	chr16:46917400-46919000	Active TSS	Osteobl	bone
22	chr16:46917400-46919200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr16:46917400-46919200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr16:46917400-46919400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:46917400-46919400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:46917400-46919600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr16:46917400-46919600	Active TSS	Brain Anterior Caudate	brain
28	chr16:46917400-46919600	Active TSS	Right Atrium	heart
29	chr16:46917400-46919800	Active TSS	Brain Angular Gyrus	brain
30	chr16:46917400-46920200	Active TSS	Fetal Kidney	kidney
31	chr16:46917400-46920400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr16:46917400-46920800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:46917600-46918200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:46917600-46918600	Active TSS	Lung	lung
35	chr16:46917600-46918800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr16:46917600-46918800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr16:46917600-46918800	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr16:46917600-46918800	Active TSS	Brain Hippocampus Middle	brain
39	chr16:46917600-46918800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr16:46917600-46919000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr16:46917600-46919000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:46917600-46919000	Active TSS	Brain Substantia Nigra	brain
43	chr16:46917600-46919000	Active TSS	Small Intestine	intestine
44	chr16:46917600-46919000	Active TSS	A549	lung
45	chr16:46917600-46919200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr16:46917600-46919200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr16:46917600-46919200	Bivalent/Poised TSS	Thymus	Thymus
48	chr16:46917600-46919400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:46917600-46919400	Active TSS	Stomach Mucosa	stomach
50	chr16:46917600-46919600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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