Variant report

Variant	rs569983784
Chromosome Location	chr16:71756680-71756681
allele	A/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	MAZ	chr16:71756616-71758293	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
2	POLR2A	chr16:71756660-71757342	U87	brain:	n/a	n/a
3	BCL3	chr16:71756646-71757162	A549	lung:	n/a	n/a
4	SP1	chr16:71756620-71757389	A549	lung:	n/a	chr16:71756899-71756909 chr16:71757005-71757012 chr16:71757019-71757031 chr16:71757020-71757034
5	FOXM1	chr16:71756552-71757077	GM12878	blood:	n/a	n/a
6	TEAD4	chr16:71756463-71757099	HepG2	liver:	n/a	n/a
7	NFIC	chr16:71756569-71757104	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:71756647-71757308	A549	lung:	n/a	chr16:71756939-71756950
9	POLR2A	chr16:71756651-71758136	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr16:71756459-71758468	IMR90	lung:	n/a	n/a
11	MAZ	chr16:71756566-71758423	IMR90	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
12	MYBL2	chr16:71756645-71757159	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr16:71756411-71757379	MCF-7	breast:	n/a	n/a
14	GATA1	chr16:71756650-71758722	PBDE	blood:	n/a	chr16:71758249-71758265
15	MAX	chr16:71756582-71758511	A549	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
16	MAX	chr16:71756562-71758473	HepG2	liver:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
17	TFAP2C	chr16:71756605-71758168	Hela-S3	cervix:	n/a	chr16:71757129-71757144
18	RFX5	chr16:71756644-71757287	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr16:71756675-71757167	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr16:71756566-71757350	Hela-S3	cervix:	n/a	n/a
21	YY1	chr16:71756671-71757332	H1-hESC	embryonic stem cell:	n/a	chr16:71757199-71757219 chr16:71756981-71756995
22	CHD2	chr16:71756558-71757214	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr16:71756628-71758357	Hela-S3	cervix:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
24	POLR2A	chr16:71756677-71758281	Raji	blood:	n/a	n/a
25	TCF12	chr16:71756522-71757414	A549	lung:	n/a	n/a
26	SIN3AK20	chr16:71756401-71758541	MCF-7	breast:	n/a	n/a
27	CEBPB	chr16:71756673-71757269	ECC-1	luminal epithelium:	n/a	chr16:71756939-71756950
28	TEAD4	chr16:71756593-71757169	K562	blood:	n/a	n/a
29	STAT3	chr16:71756511-71756804	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF263	chr16:71756568-71757741	HEK293-T-REx	kidney:	n/a	chr16:71757023-71757032 chr16:71756792-71756801 chr16:71756888-71756909
31	MXI1	chr16:71756639-71757229	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr16:71756604-71756905	MCF10A-Er-Src	breast:	n/a	n/a
33	MAZ	chr16:71756564-71758254	Hela-S3	cervix:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
34	MAZ	chr16:71756595-71758403	K562	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
35	SIN3AK20	chr16:71756488-71756900	A549	lung:	n/a	n/a
36	MBD4	chr16:71756611-71757111	HepG2	liver:	n/a	n/a
37	CREB1	chr16:71756556-71758432	HepG2	liver:	n/a	n/a
38	TEAD4	chr16:71756529-71757282	ECC-1	luminal epithelium:	n/a	n/a
39	MXI1	chr16:71756396-71758734	SK-N-SH	brain:	n/a	n/a
40	CEBPB	chr16:71756647-71757234	MCF-7	breast:	n/a	chr16:71756939-71756950
41	SIN3A	chr16:71756652-71758382	H1-hESC	embryonic stem cell:	n/a	chr16:71757064-71757073
42	MAX	chr16:71756616-71757555	MCF-7	breast:	n/a	chr16:71757398-71757407
43	PML	chr16:71756670-71757193	GM12878	blood:	n/a	n/a
44	CHD2	chr16:71756603-71757329	Hela-S3	cervix:	n/a	n/a
45	ZBTB7A	chr16:71756671-71757478	ECC-1	luminal epithelium:	n/a	n/a
46	ZNF217	chr16:71756658-71757087	MCF-7	breast:	n/a	n/a
47	REST	chr16:71756600-71757357	A549	lung:	n/a	chr16:71756985-71756995 chr16:71757275-71757288
48	CHD1	chr16:71756585-71757251	H1-hESC	embryonic stem cell:	n/a	n/a
49	TEAD4	chr16:71756643-71757062	K562	blood:	n/a	n/a
50	RCOR1	chr16:71756647-71758400	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71756383..71758703-chr16:71759355..71761226,2	MCF-7	breast:
2	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
3	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
4	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
5	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
6	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:
7	chr16:71756422..71758416-chr16:71842004..71843953,2	MCF-7	breast:
8	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
9	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
10	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
11	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
12	chr1:11967125..11969776-chr16:71755847..71757507,2	MCF-7	breast:
13	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
14	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:

Variant related genes	Relation type
ENSG00000260612	TF binding region
ENSG00000261513	TF binding region
ENSG00000260612	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000261765	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv3326836	chr16:71756476-71759024	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	esv3524934	chr16:71756501-71759099	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	esv3524935	chr16:71756501-71759099	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71705000-71756800	Weak transcription	Gastric	stomach
2	chr16:71710600-71756800	Weak transcription	Lung	lung
3	chr16:71734000-71756800	Weak transcription	Pancreas	Pancrea
4	chr16:71741600-71756800	Weak transcription	Small Intestine	intestine
5	chr16:71742000-71756800	Weak transcription	Spleen	Spleen
6	chr16:71753400-71756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:71755600-71758000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:71755800-71758400	Active TSS	NHLF	lung
9	chr16:71756000-71756800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:71756000-71756800	Enhancers	Esophagus	oesophagus
11	chr16:71756000-71756800	Flanking Active TSS	Hela-S3	cervix
12	chr16:71756000-71757000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:71756000-71757000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr16:71756200-71756800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr16:71756200-71756800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr16:71756200-71756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:71756200-71756800	Flanking Active TSS	GM12878-XiMat	blood
18	chr16:71756200-71757000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71756200-71758000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:71756200-71758000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:71756200-71758000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:71756200-71758200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:71756200-71758200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr16:71756200-71758200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:71756200-71758200	Active TSS	Colonic Mucosa	Colon
26	chr16:71756200-71758200	Active TSS	A549	lung
27	chr16:71756200-71758200	Active TSS	HSMM	muscle
28	chr16:71756200-71758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:71756200-71758400	Active TSS	Fetal Kidney	kidney
30	chr16:71756400-71756800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:71756400-71756800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:71756400-71756800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr16:71756400-71756800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr16:71756400-71756800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr16:71756400-71756800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr16:71756400-71756800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:71756400-71756800	Flanking Active TSS	Fetal Brain Male	brain
38	chr16:71756400-71756800	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr16:71756400-71756800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr16:71756400-71756800	Flanking Active TSS	Fetal Lung	lung
41	chr16:71756400-71756800	Flanking Active TSS	NH-A	brain
42	chr16:71756400-71756800	Flanking Active TSS	NHEK	skin
43	chr16:71756400-71757000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:71756400-71757000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr16:71756400-71757000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr16:71756400-71757000	Flanking Active TSS	Fetal Brain Female	brain
47	chr16:71756400-71757000	Flanking Active TSS	HUVEC	blood vessel
48	chr16:71756400-71757000	Flanking Active TSS	K562	blood
49	chr16:71756400-71757200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:71756400-71757200	Flanking Active TSS	Dnd41	blood

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