Variant report

Variant	rs1423725
Chromosome Location	chr16:69599271-69599272
allele	A/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	ZBTB7A	chr16:69599177-69601050	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr16:69597575-69599326	GM12878	blood:	n/a	n/a
3	ZNF384	chr16:69599041-69600202	K562	blood:	n/a	n/a
4	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
5	POLR2A	chr16:69597676-69601656	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:69599236-69600218	PANC-1	pancreas:	n/a	n/a
7	FOXA2	chr16:69599255-69599900	HepG2	liver:	n/a	n/a
8	MBD4	chr16:69599031-69600098	HepG2	liver:	n/a	n/a
9	HEY1	chr16:69599156-69600273	HepG2	liver:	n/a	chr16:69600173-69600188 chr16:69599642-69599657 chr16:69599881-69599896
10	HCFC1	chr16:69599080-69602061	Hela-S3	cervix:	n/a	n/a
11	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
12	SIX5	chr16:69599032-69600153	A549	lung:	n/a	chr16:69599311-69599325
13	ARID3A	chr16:69599135-69599960	HepG2	liver:	n/a	chr16:69599320-69599336 chr16:69599319-69599335
14	EP300	chr16:69598709-69600350	A549	lung:	n/a	chr16:69600103-69600112 chr16:69599882-69599891 chr16:69599827-69599843 chr16:69599498-69599507
15	RELA	chr16:69597764-69600123	GM18505	blood:	n/a	chr16:69598024-69598033 chr16:69598024-69598033
16	POLR2A	chr16:69599096-69600955	HCT-116	colon:	n/a	n/a
17	MAZ	chr16:69599248-69601548	K562	blood:	n/a	chr16:69599673-69599683 chr16:69600596-69600606 chr16:69600301-69600310 chr16:69600446-69600456
18	POLR2A	chr16:69598651-69601303	HUVEC	blood vessel:	n/a	n/a
19	RCOR1	chr16:69599154-69600291	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr16:69599208-69601085	HepG2	liver:	n/a	n/a
21	REST	chr16:69599225-69600034	A549	lung:	n/a	chr16:69599437-69599450 chr16:69599824-69599837
22	POLR2A	chr16:69599160-69601425	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr16:69599168-69600421	MCF-7	breast:	n/a	n/a
24	POLR2A	chr16:69599219-69600274	PFSK-1	brain:	n/a	n/a
25	REST	chr16:69598838-69600356	A549	lung:	n/a	chr16:69599437-69599450 chr16:69600030-69600050 chr16:69599824-69599837 chr16:69600173-69600186 chr16:69600287-69600300
26	EP300	chr16:69598939-69600020	GM12878	blood:	n/a	chr16:69599882-69599891 chr16:69599827-69599843 chr16:69599498-69599507
27	ZNF384	chr16:69599069-69599451	GM12878	blood:	n/a	n/a
28	FOXA1	chr16:69599265-69599509	T-47D	breast:	n/a	n/a
29	FOXA1	chr16:69599261-69600017	HepG2	liver:	n/a	n/a
30	FOXA1	chr16:69599207-69600068	HepG2	liver:	n/a	n/a
31	TCF12	chr16:69599222-69600122	ECC-1	luminal epithelium:	n/a	n/a
32	UBTF	chr16:69599270-69601352	K562	blood:	n/a	n/a
33	GATA1	chr16:69597894-69600163	PBDE	blood:	n/a	chr16:69598287-69598297 chr16:69598286-69598298 chr16:69598284-69598300
34	POLR2A	chr16:69597700-69601586	GM12878	blood:	n/a	n/a
35	MYBL2	chr16:69599255-69600616	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:69597687-69601653	GM12891	blood:	n/a	n/a
37	JUND	chr16:69598853-69601462	SK-N-SH	brain:	n/a	chr16:69600278-69600286
38	BCLAF1	chr16:69599157-69600123	GM12878	blood:	n/a	chr16:69600080-69600093 chr16:69599683-69599696 chr16:69599580-69599593 chr16:69599884-69599893 chr16:69599881-69599890 chr16:69599831-69599840 chr16:69599584-69599597
39	EP300	chr16:69599158-69601152	SK-N-SH	brain:	n/a	chr16:69600103-69600112 chr16:69600364-69600380 chr16:69600576-69600592 chr16:69599882-69599891 chr16:69599827-69599843 chr16:69600714-69600723 chr16:69600488-69600497 chr16:69599498-69599507
40	CHD1	chr16:69598888-69599874	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAL1	chr16:69599008-69600203	K562	blood:	n/a	n/a
42	POLR2A	chr16:69598719-69599288	GM12891	blood:	n/a	n/a
43	PRDM1	chr16:69599156-69599448	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr16:69597801-69600266	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:69599024-69600274	GM12891	blood:	n/a	n/a
46	IRF1	chr16:69599163-69600123	K562	blood:	n/a	chr16:69599855-69599869
47	POLR2A	chr16:69598969-69600442	GM12892	blood:	n/a	n/a
48	POLR2A	chr16:69598983-69601130	K562	blood:	n/a	n/a
49	FOXA1	chr16:69599211-69599939	HepG2	liver:	n/a	n/a
50	MXI1	chr16:69598093-69601803	SK-N-SH	brain:	n/a	chr16:69598835-69598844 chr16:69598833-69598842

No.	Distal block	Cell Line	Cell type
1	chr16:69372039..69374282-chr16:69599162..69601427,3	MCF-7	breast:
2	chr11:62608480..62609642-chr16:69599026..69599940,3	Hela-S3	cervix:
3	chr16:69457747..69460846-chr16:69598845..69601292,3	MCF-7	breast:
4	chr16:69457237..69459987-chr16:69598210..69601258,3	K562	blood:
5	chr16:69418494..69421401-chr16:69598786..69600485,2	K562	blood:
6	chr16:69372156..69375049-chr16:69597918..69599704,2	K562	blood:
7	chr16:69598363..69600435-chr16:69788003..69790759,3	MCF-7	breast:
8	chr16:69598159..69601662-chr16:69788408..69790769,3	K562	blood:
9	chr16:69456628..69460851-chr16:69598482..69601931,4	MCF-7	breast:

Variant related genes	Relation type
NFAT5	TF binding region
ENSG00000141101	Chromatin interaction
ENSG00000132604	Chromatin interaction
ENSG00000103018	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000213380	Chromatin interaction
ENSG00000132603	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16958978	0.84[AFR][1000 genomes]
rs16958991	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69597600-69599400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr16:69597800-69599400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr16:69597800-69599400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:69597800-69599400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:69598000-69599400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr16:69598000-69599400	Flanking Active TSS	Hela-S3	cervix
7	chr16:69598000-69599400	Flanking Active TSS	HUVEC	blood vessel
8	chr16:69598000-69601600	Active TSS	Placenta Amnion	Placenta Amnion
9	chr16:69598000-69604600	Active TSS	GM12878-XiMat	blood
10	chr16:69598200-69599400	Flanking Active TSS	Dnd41	blood
11	chr16:69598200-69602400	Active TSS	NHDF-Ad	bronchial
12	chr16:69598400-69599400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:69598400-69599400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr16:69598400-69599600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr16:69598400-69600800	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr16:69598400-69601000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr16:69598400-69601200	Active TSS	Fetal Brain Female	brain
18	chr16:69598400-69601200	Active TSS	Stomach Smooth Muscle	stomach
19	chr16:69598400-69601800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr16:69598400-69601800	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr16:69598400-69601800	Active TSS	Right Atrium	heart
22	chr16:69598400-69602000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr16:69598400-69602000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr16:69598400-69602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:69598400-69602800	Active TSS	A549	lung
26	chr16:69598600-69600000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:69598600-69600800	Active TSS	Primary T cells fromperipheralblood	blood
28	chr16:69598600-69600800	Active TSS	Fetal Thymus	thymus
29	chr16:69598600-69601000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:69598600-69601000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:69598600-69601000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr16:69598600-69601000	Active TSS	Thymus	Thymus
33	chr16:69598600-69601200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:69598600-69601400	Active TSS	Duodenum Mucosa	Duodenum
35	chr16:69598600-69601400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr16:69598600-69601400	Active TSS	Fetal Lung	lung
37	chr16:69598600-69601600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr16:69598600-69601600	Active TSS	HMEC	breast
39	chr16:69598600-69601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:69598600-69601800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:69598600-69602200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:69598600-69602400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:69598600-69602400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:69598600-69602400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:69598600-69602400	Active TSS	K562	blood
46	chr16:69598600-69602600	Active TSS	HSMMtube	muscle
47	chr16:69598600-69603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:69598800-69599400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr16:69598800-69599600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr16:69598800-69600000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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