Variant report

Variant	rs573559634
Chromosome Location	chr16:46918696-46918697
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	chr16:46917100-46919226	NB4	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
2	POLR2A	chr16:46917470-46919162	MCF-7	breast:	n/a	n/a
3	E2F4	chr16:46917806-46918716	K562	blood:	n/a	n/a
4	EP300	chr16:46917587-46919168	ECC-1	luminal epithelium:	n/a	chr16:46918582-46918596 chr16:46918215-46918231 chr16:46918127-46918143
5	MAX	chr16:46917631-46918748	MCF-7	breast:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
6	JUN	chr16:46917084-46919265	K562	blood:	n/a	n/a
7	MXI1	chr16:46917618-46919470	IMR90	lung:	n/a	n/a
8	MYC	chr16:46917636-46918927	MCF-7	breast:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
9	UBTF	chr16:46918680-46918845	K562	blood:	n/a	n/a
10	SIN3A	chr16:46917749-46918964	H1-hESC	embryonic stem cell:	n/a	chr16:46918067-46918078 chr16:46918903-46918916 chr16:46918065-46918078 chr16:46918298-46918309
11	HEY1	chr16:46916133-46918947	HepG2	liver:	n/a	chr16:46918010-46918025 chr16:46918124-46918139 chr16:46918214-46918229 chr16:46918437-46918452
12	SMARCB1	chr16:46917649-46919041	Hela-S3	cervix:	n/a	chr16:46918147-46918156
13	TAF1	chr16:46917256-46918780	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr16:46917636-46919235	H1-neurons	neurons:	n/a	n/a
15	ZBTB7A	chr16:46917566-46918869	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr16:46917532-46919095	ECC-1	luminal epithelium:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
17	POLR2A	chr16:46917650-46918854	GM18951	blood:	n/a	n/a
18	REST	chr16:46917413-46918941	H1-neurons	neurons:	n/a	chr16:46918903-46918916 chr16:46918925-46918938 chr16:46918133-46918143 chr16:46918925-46918938
19	ZEB1	chr16:46918606-46918935	GM12878	blood:	n/a	chr16:46918792-46918801
20	POLR2A	chr16:46917645-46918978	H1-neurons	neurons:	n/a	n/a
21	TCF12	chr16:46917593-46918814	ECC-1	luminal epithelium:	n/a	chr16:46917923-46917930
22	RCOR1	chr16:46917167-46918751	IMR90	lung:	n/a	n/a
23	CREB1	chr16:46916064-46919268	HepG2	liver:	n/a	n/a
24	MAX	chr16:46918594-46919312	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr16:46917264-46919359	HL-60	blood:	n/a	n/a
26	TAF1	chr16:46917628-46919065	HepG2	liver:	n/a	n/a
27	E2F6	chr16:46917691-46918996	K562	blood:	n/a	chr16:46918095-46918106
28	MAX	chr16:46917322-46918830	A549	lung:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
29	ELF1	chr16:46917625-46918749	GM12878	blood:	n/a	n/a
30	MAX	chr16:46917534-46919238	ECC-1	luminal epithelium:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
31	POLR2A	chr16:46916503-46922808	HepG2	liver:	n/a	n/a
32	MAX	chr16:46917519-46918941	K562	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
33	ZBTB7A	chr16:46918544-46918787	K562	blood:	n/a	n/a
34	SIN3AK20	chr16:46917588-46918782	PANC-1	pancreas:	n/a	n/a
35	ZBTB7A	chr16:46918276-46918873	ECC-1	luminal epithelium:	n/a	n/a
36	MAX	chr16:46916487-46919276	NB4	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
37	POLR2A	chr16:46916226-46919725	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr16:46917646-46918975	HepG2	liver:	n/a	chr16:46918067-46918078 chr16:46918167-46918178 chr16:46918014-46918025 chr16:46918301-46918315
39	CCNT2	chr16:46917551-46918774	K562	blood:	n/a	chr16:46918022-46918031
40	HCFC1	chr16:46917412-46919017	Hela-S3	cervix:	n/a	n/a
41	TAF1	chr16:46917629-46919048	HepG2	liver:	n/a	n/a
42	HMGN3	chr16:46917681-46919017	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46822185..46825488-chr16:46917726..46919426,3	K562	blood:

Variant related genes	Relation type
GPT2	TF binding region
ENSG00000140795	Chromatin interaction
ENSG00000260782	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	chr16:46917400-46918800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr16:46917400-46918800	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr16:46917400-46918800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:46917400-46918800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:46917400-46918800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr16:46917400-46918800	Active TSS	Psoas Muscle	Psoas
15	chr16:46917400-46918800	Active TSS	Rectal Smooth Muscle	rectum
16	chr16:46917400-46919000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:46917400-46919000	Active TSS	Aorta	Aorta
18	chr16:46917400-46919000	Active TSS	Colon Smooth Muscle	Colon
19	chr16:46917400-46919000	Active TSS	Osteobl	bone
20	chr16:46917400-46919200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr16:46917400-46919200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr16:46917400-46919400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:46917400-46919400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:46917400-46919600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:46917400-46919600	Active TSS	Brain Anterior Caudate	brain
26	chr16:46917400-46919600	Active TSS	Right Atrium	heart
27	chr16:46917400-46919800	Active TSS	Brain Angular Gyrus	brain
28	chr16:46917400-46920200	Active TSS	Fetal Kidney	kidney
29	chr16:46917400-46920400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr16:46917400-46920800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:46917600-46918800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:46917600-46918800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr16:46917600-46918800	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr16:46917600-46918800	Active TSS	Brain Hippocampus Middle	brain
35	chr16:46917600-46918800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr16:46917600-46919000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr16:46917600-46919000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:46917600-46919000	Active TSS	Brain Substantia Nigra	brain
39	chr16:46917600-46919000	Active TSS	Small Intestine	intestine
40	chr16:46917600-46919000	Active TSS	A549	lung
41	chr16:46917600-46919200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr16:46917600-46919200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr16:46917600-46919200	Bivalent/Poised TSS	Thymus	Thymus
44	chr16:46917600-46919400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:46917600-46919400	Active TSS	Stomach Mucosa	stomach
46	chr16:46917600-46919600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:46917600-46919600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr16:46917600-46919600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr16:46917600-46919600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:46917600-46919600	Active TSS	Fetal Brain Female	brain

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