Variant report

Variant	rs532047133
Chromosome Location	chr16:69599853-69599854
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	ATF2	chr16:69599615-69600003	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:69599284-69600825	HepG2	liver:	n/a	n/a
3	BRCA1	chr16:69599649-69599974	Hela-S3	cervix:	n/a	n/a
4	ZBTB33	chr16:69599504-69600058	GM12878	blood:	n/a	n/a
5	ZBTB7A	chr16:69599177-69601050	ECC-1	luminal epithelium:	n/a	n/a
6	SP1	chr16:69599574-69600107	GM12878	blood:	n/a	chr16:69599857-69599866 chr16:69599662-69599676 chr16:69599856-69599865 chr16:69599857-69599866 chr16:69599855-69599867 chr16:69599780-69599792 chr16:69599951-69599965 chr16:69599782-69599791 chr16:69599856-69599866 chr16:69599780-69599791 chr16:69599856-69599866 chr16:69599855-69599867
7	SIN3A	chr16:69599420-69600103	GM12878	blood:	n/a	chr16:69599437-69599448 chr16:69599437-69599450
8	POLR2A	chr16:69599375-69601245	IMR90	lung:	n/a	n/a
9	SIN3AK20	chr16:69599678-69600104	A549	lung:	n/a	n/a
10	MAX	chr16:69599347-69600083	SK-N-SH	brain:	n/a	chr16:69599673-69599683
11	ETS1	chr16:69599513-69600034	K562	blood:	n/a	chr16:69599881-69599892 chr16:69599884-69599895
12	SPI1	chr16:69599641-69599920	GM12891	blood:	n/a	n/a
13	PAX5	chr16:69599640-69599971	GM12878	blood:	n/a	n/a
14	EBF1	chr16:69599543-69600278	GM12878	blood:	n/a	n/a
15	TAF1	chr16:69599629-69600004	A549	lung:	n/a	n/a
16	ZNF384	chr16:69599041-69600202	K562	blood:	n/a	n/a
17	HDAC2	chr16:69599358-69600971	HepG2	liver:	n/a	n/a
18	TEAD4	chr16:69599678-69600050	K562	blood:	n/a	n/a
19	ARID3A	chr16:69599668-69599868	K562	blood:	n/a	n/a
20	EGR1	chr16:69599200-69600588	HCT-116	colon:	n/a	chr16:69600444-69600458 chr16:69600469-69600483 chr16:69599651-69599661 chr16:69599882-69599896 chr16:69600445-69600455 chr16:69600442-69600457 chr16:69600443-69600456 chr16:69599836-69599845 chr16:69600443-69600456 chr16:69599782-69599792 chr16:69599856-69599866 chr16:69599854-69599863
21	POLR2A	chr16:69597676-69601656	GM12878	blood:	n/a	n/a
22	REST	chr16:69599541-69600331	H1-neurons	neurons:	n/a	chr16:69600030-69600050 chr16:69599824-69599837 chr16:69600173-69600186 chr16:69600287-69600300
23	POLR2A	chr16:69599236-69600218	PANC-1	pancreas:	n/a	n/a
24	MAX	chr16:69599396-69600181	MCF-7	breast:	n/a	chr16:69599673-69599683
25	JUND	chr16:69599728-69599920	HepG2	liver:	n/a	n/a
26	RAD21	chr16:69599354-69600022	SK-N-SH_RA	brain:	n/a	chr16:69599605-69599614 chr16:69599585-69599599 chr16:69599502-69599515 chr16:69599789-69599802
27	POLR2A	chr16:69599316-69600936	K562	blood:	n/a	n/a
28	POLR2A	chr16:69599369-69600690	HepG2	liver:	n/a	n/a
29	TEAD4	chr16:69599340-69600110	HepG2	liver:	n/a	n/a
30	RAD21	chr16:69599381-69599978	HepG2	liver:	n/a	chr16:69599605-69599614 chr16:69599585-69599599 chr16:69599502-69599515 chr16:69599789-69599802
31	ZNF143	chr16:69599669-69600073	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:69599388-69600169	K562	blood:	n/a	n/a
33	FOXA2	chr16:69599255-69599900	HepG2	liver:	n/a	n/a
34	JUN	chr16:69599682-69600024	K562	blood:	n/a	n/a
35	SRF	chr16:69599636-69599902	HepG2	liver:	n/a	n/a
36	ZNF143	chr16:69599567-69600031	GM12878	blood:	n/a	chr16:69599658-69599677
37	FAM48A	chr16:69599616-69599993	GM12878	blood:	n/a	n/a
38	TAF1	chr16:69599366-69600283	Hela-S3	cervix:	n/a	n/a
39	ZKSCAN1	chr16:69599427-69600114	Hela-S3	cervix:	n/a	n/a
40	E2F4	chr16:69599479-69599923	MCF10A-Er-Src	breast:	n/a	chr16:69599836-69599845 chr16:69599881-69599891 chr16:69599856-69599865 chr16:69599779-69599791 chr16:69599805-69599820
41	TBP	chr16:69599637-69600129	GM12878	blood:	n/a	n/a
42	TAF1	chr16:69599553-69600084	SK-N-SH	brain:	n/a	n/a
43	MBD4	chr16:69599031-69600098	HepG2	liver:	n/a	n/a
44	GATA3	chr16:69599567-69600086	T-47D	breast:	n/a	n/a
45	REST	chr16:69599633-69599927	Hela-S3	cervix:	n/a	chr16:69599824-69599837
46	MEF2A	chr16:69599441-69600050	GM12878	blood:	n/a	n/a
47	HEY1	chr16:69599156-69600273	HepG2	liver:	n/a	chr16:69600173-69600188 chr16:69599642-69599657 chr16:69599881-69599896
48	PML	chr16:69599593-69600199	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:69599373-69600133	MCF10A-Er-Src	breast:	n/a	n/a
50	SRF	chr16:69599672-69599866	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:69382266..69384558-chr16:69599688..69602481,2	MCF-7	breast:
2	chr16:69372039..69374282-chr16:69599162..69601427,3	MCF-7	breast:
3	chr16:69599296..69599970-chr2:10260571..10261353,2	Hela-S3	cervix:
4	chr11:62608480..62609642-chr16:69599026..69599940,3	Hela-S3	cervix:
5	chr14:20937149..20937984-chr16:69599848..69600473,2	Hela-S3	cervix:
6	chr16:69399834..69402681-chr16:69599587..69601145,2	MCF-7	breast:
7	chr16:69361349..69363813-chr16:69599663..69601877,2	K562	blood:
8	chr16:69599740..69600363-chr8:37962522..37963242,2	Hela-S3	cervix:
9	chr16:69457747..69460846-chr16:69598845..69601292,3	MCF-7	breast:
10	chr16:69457237..69459987-chr16:69598210..69601258,3	K562	blood:
11	chr16:69418494..69421401-chr16:69598786..69600485,2	K562	blood:
12	chr16:69418062..69420388-chr16:69599340..69603002,4	K562	blood:
13	chr16:69598363..69600435-chr16:69788003..69790759,3	MCF-7	breast:
14	chr16:69419330..69422413-chr16:69599537..69603088,3	MCF-7	breast:
15	chr16:69598159..69601662-chr16:69788408..69790769,3	K562	blood:
16	chr16:69456628..69460851-chr16:69598482..69601931,4	MCF-7	breast:
17	chr12:56435688..56436591-chr16:69599703..69600348,2	Hela-S3	cervix:
18	chr16:69599623..69601716-chr16:69757663..69760565,3	MCF-7	breast:

Variant related genes	Relation type
NFAT5	TF binding region
MIR1538	TF binding region
ENSG00000129691	Chromatin interaction
ENSG00000132604	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000103018	Chromatin interaction
ENSG00000157315	Chromatin interaction
ENSG00000132603	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000213380	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000181019	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3401540	chr16:69598976-69601824	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases
3	esv3337776	chr16:69599501-69601999	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69598000-69601600	Active TSS	Placenta Amnion	Placenta Amnion
2	chr16:69598000-69604600	Active TSS	GM12878-XiMat	blood
3	chr16:69598200-69602400	Active TSS	NHDF-Ad	bronchial
4	chr16:69598400-69600800	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr16:69598400-69601000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr16:69598400-69601200	Active TSS	Fetal Brain Female	brain
7	chr16:69598400-69601200	Active TSS	Stomach Smooth Muscle	stomach
8	chr16:69598400-69601800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr16:69598400-69601800	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr16:69598400-69601800	Active TSS	Right Atrium	heart
11	chr16:69598400-69602000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr16:69598400-69602000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr16:69598400-69602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:69598400-69602800	Active TSS	A549	lung
15	chr16:69598600-69600000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:69598600-69600800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr16:69598600-69600800	Active TSS	Fetal Thymus	thymus
18	chr16:69598600-69601000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:69598600-69601000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:69598600-69601000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr16:69598600-69601000	Active TSS	Thymus	Thymus
22	chr16:69598600-69601200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr16:69598600-69601400	Active TSS	Duodenum Mucosa	Duodenum
24	chr16:69598600-69601400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr16:69598600-69601400	Active TSS	Fetal Lung	lung
26	chr16:69598600-69601600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr16:69598600-69601600	Active TSS	HMEC	breast
28	chr16:69598600-69601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:69598600-69601800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:69598600-69602200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:69598600-69602400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:69598600-69602400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:69598600-69602400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:69598600-69602400	Active TSS	K562	blood
35	chr16:69598600-69602600	Active TSS	HSMMtube	muscle
36	chr16:69598600-69603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:69598800-69600000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:69598800-69600800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:69598800-69601000	Active TSS	Brain Angular Gyrus	brain
40	chr16:69598800-69601000	Active TSS	Fetal Brain Male	brain
41	chr16:69598800-69601000	Active TSS	Fetal Muscle Leg	muscle
42	chr16:69598800-69601000	Active TSS	Psoas Muscle	Psoas
43	chr16:69598800-69601000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr16:69598800-69601200	Active TSS	Brain Anterior Caudate	brain
45	chr16:69598800-69601200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr16:69598800-69601200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr16:69598800-69601400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:69598800-69601400	Active TSS	Fetal Intestine Large	intestine
49	chr16:69598800-69601400	Active TSS	Placenta	Placenta
50	chr16:69598800-69601400	Active TSS	Fetal Stomach	stomach

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