Variant report

Variant	rs373280302
Chromosome Location	chr16:69600243-69600244
allele	A/C
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	POLR2A	chr16:69599284-69600825	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr16:69599177-69601050	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:69599375-69601245	IMR90	lung:	n/a	n/a
4	MYC	chr16:69600199-69600267	HUVEC	blood vessel:	n/a	n/a
5	ELF1	chr16:69599995-69600359	K562	blood:	n/a	chr16:69600145-69600157
6	MYC	chr16:69599992-69600244	MCF-7	breast:	n/a	n/a
7	EBF1	chr16:69599543-69600278	GM12878	blood:	n/a	n/a
8	HDAC2	chr16:69599358-69600971	HepG2	liver:	n/a	n/a
9	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
10	POLR2A	chr16:69597676-69601656	GM12878	blood:	n/a	n/a
11	REST	chr16:69599541-69600331	H1-neurons	neurons:	n/a	chr16:69600030-69600050 chr16:69599824-69599837 chr16:69600173-69600186 chr16:69600287-69600300
12	SIN3AK20	chr16:69600125-69600561	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:69599316-69600936	K562	blood:	n/a	n/a
14	POLR2A	chr16:69599369-69600690	HepG2	liver:	n/a	n/a
15	TAF1	chr16:69599366-69600283	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr16:69600103-69600323	H1-hESC	embryonic stem cell:	n/a	n/a
17	HEY1	chr16:69599156-69600273	HepG2	liver:	n/a	chr16:69600173-69600188 chr16:69599642-69599657 chr16:69599881-69599896
18	HDAC2	chr16:69599950-69600458	K562	blood:	n/a	n/a
19	SIN3AK20	chr16:69599352-69600478	HCT-116	colon:	n/a	n/a
20	MAX	chr16:69599515-69600274	A549	lung:	n/a	chr16:69599673-69599683
21	HCFC1	chr16:69599080-69602061	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:69599378-69600840	A549	lung:	n/a	n/a
23	POLR2A	chr16:69599331-69600493	H1-neurons	neurons:	n/a	n/a
24	YY1	chr16:69599394-69600529	ECC-1	luminal epithelium:	n/a	chr16:69600163-69600174 chr16:69599886-69599900 chr16:69599823-69599837 chr16:69599499-69599513 chr16:69600080-69600094 chr16:69600103-69600112 chr16:69599883-69599892 chr16:69599881-69599892 chr16:69599884-69599895 chr16:69600364-69600378 chr16:69599856-69599865
25	MAX	chr16:69599358-69601067	A549	lung:	n/a	chr16:69599673-69599683 chr16:69600596-69600606 chr16:69600301-69600310 chr16:69600446-69600456
26	POLR2A	chr16:69599368-69600420	HL-60	blood:	n/a	n/a
27	CCNT2	chr16:69599344-69600839	K562	blood:	n/a	chr16:69600471-69600480 chr16:69599856-69599865 chr16:69600293-69600302
28	POLR2A	chr16:69599329-69600324	HUVEC	blood vessel:	n/a	n/a
29	RCOR1	chr16:69599441-69600878	K562	blood:	n/a	n/a
30	POLR2A	chr16:69599276-69600953	MCF-7	breast:	n/a	n/a
31	CHD2	chr16:69599519-69601016	GM12878	blood:	n/a	chr16:69600157-69600167
32	EP300	chr16:69599301-69600245	SK-N-SH	brain:	n/a	chr16:69600103-69600112 chr16:69599882-69599891 chr16:69599827-69599843 chr16:69599498-69599507
33	MYC	chr16:69598001-69601335	K562	blood:	n/a	chr16:69598834-69598843 chr16:69598834-69598843 chr16:69599673-69599683 chr16:69598833-69598844 chr16:69598834-69598844 chr16:69600596-69600606 chr16:69600301-69600310 chr16:69598834-69598843 chr16:69598833-69598843 chr16:69600446-69600456
34	POLR2A	chr16:69599288-69600890	K562	blood:	n/a	n/a
35	POLR2A	chr16:69599361-69600805	K562	blood:	n/a	n/a
36	POLR2A	chr16:69599414-69600570	GM12878	blood:	n/a	n/a
37	EP300	chr16:69598709-69600350	A549	lung:	n/a	chr16:69600103-69600112 chr16:69599882-69599891 chr16:69599827-69599843 chr16:69599498-69599507
38	POLR2A	chr16:69599096-69600955	HCT-116	colon:	n/a	n/a
39	ELF1	chr16:69599346-69600271	GM12878	blood:	n/a	chr16:69599782-69599794 chr16:69599883-69599892 chr16:69599501-69599513 chr16:69599881-69599893 chr16:69599586-69599598 chr16:69600145-69600157 chr16:69599498-69599507
40	POLR2A	chr16:69599286-69601172	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr16:69599248-69601548	K562	blood:	n/a	chr16:69599673-69599683 chr16:69600596-69600606 chr16:69600301-69600310 chr16:69600446-69600456
42	POLR2A	chr16:69598651-69601303	HUVEC	blood vessel:	n/a	n/a
43	TEAD4	chr16:69599482-69600437	ECC-1	luminal epithelium:	n/a	n/a
44	RCOR1	chr16:69599154-69600291	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr16:69599339-69600277	HepG2	liver:	n/a	n/a
46	HEY1	chr16:69599316-69600276	K562	blood:	n/a	chr16:69600173-69600188 chr16:69599642-69599657 chr16:69599881-69599896
47	JUND	chr16:69599332-69600966	A549	lung:	n/a	chr16:69600278-69600286
48	CREB1	chr16:69599208-69601085	HepG2	liver:	n/a	n/a
49	EGR1	chr16:69599575-69600612	K562	blood:	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 chr16:69600597-69600607 chr16:69600443-69600456 chr16:69599782-69599792 chr16:69599856-69599866 chr16:69599854-69599863
50	POLR2A	chr16:69599160-69601425	H1-hESC	embryonic stem cell:	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	chr14:20937149..20937984-chr16:69599848..69600473,2	Hela-S3	cervix:
4	chr16:69399834..69402681-chr16:69599587..69601145,2	MCF-7	breast:
5	chr16:69361349..69363813-chr16:69599663..69601877,2	K562	blood:
6	chr16:69599740..69600363-chr8:37962522..37963242,2	Hela-S3	cervix:
7	chr16:69457747..69460846-chr16:69598845..69601292,3	MCF-7	breast:
8	chr16:69457237..69459987-chr16:69598210..69601258,3	K562	blood:
9	chr16:69418494..69421401-chr16:69598786..69600485,2	K562	blood:
10	chr16:69418062..69420388-chr16:69599340..69603002,4	K562	blood:
11	chr16:69598363..69600435-chr16:69788003..69790759,3	MCF-7	breast:
12	chr16:69419330..69422413-chr16:69599537..69603088,3	MCF-7	breast:
13	chr16:69598159..69601662-chr16:69788408..69790769,3	K562	blood:
14	chr16:69456628..69460851-chr16:69598482..69601931,4	MCF-7	breast:
15	chr1:151964894..151965453-chr16:69599856..69600428,2	Hela-S3	cervix:
16	chr12:56435688..56436591-chr16:69599703..69600348,2	Hela-S3	cervix:
17	chr16:69599623..69601716-chr16:69757663..69760565,3	MCF-7	breast:

Variant related genes	Relation type
MIR1538	TF binding region
NFAT5	TF binding region
ENSG00000129691	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000132603	Chromatin interaction
ENSG00000213380	Chromatin interaction
ENSG00000157315	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000103018	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000132604	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	chr16:69598600-69600800	Active TSS	Primary T cells fromperipheralblood	blood
16	chr16:69598600-69600800	Active TSS	Fetal Thymus	thymus
17	chr16:69598600-69601000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr16:69598600-69601000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:69598600-69601000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr16:69598600-69601000	Active TSS	Thymus	Thymus
21	chr16:69598600-69601200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr16:69598600-69601400	Active TSS	Duodenum Mucosa	Duodenum
23	chr16:69598600-69601400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr16:69598600-69601400	Active TSS	Fetal Lung	lung
25	chr16:69598600-69601600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr16:69598600-69601600	Active TSS	HMEC	breast
27	chr16:69598600-69601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:69598600-69601800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:69598600-69602200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:69598600-69602400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:69598600-69602400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:69598600-69602400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:69598600-69602400	Active TSS	K562	blood
34	chr16:69598600-69602600	Active TSS	HSMMtube	muscle
35	chr16:69598600-69603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:69598800-69600800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:69598800-69601000	Active TSS	Brain Angular Gyrus	brain
38	chr16:69598800-69601000	Active TSS	Fetal Brain Male	brain
39	chr16:69598800-69601000	Active TSS	Fetal Muscle Leg	muscle
40	chr16:69598800-69601000	Active TSS	Psoas Muscle	Psoas
41	chr16:69598800-69601000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr16:69598800-69601200	Active TSS	Brain Anterior Caudate	brain
43	chr16:69598800-69601200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr16:69598800-69601200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr16:69598800-69601400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:69598800-69601400	Active TSS	Fetal Intestine Large	intestine
47	chr16:69598800-69601400	Active TSS	Placenta	Placenta
48	chr16:69598800-69601400	Active TSS	Fetal Stomach	stomach
49	chr16:69598800-69601400	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr16:69598800-69601600	Active TSS	Aorta	Aorta

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