Variant report

Variant	rs560189188
Chromosome Location	chr4:79696758-79696759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:321)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:79696680-79697774	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
3	MAZ	chr4:79696696-79697686	Hela-S3	cervix:	n/a	chr4:79697385-79697395
4	POLR2A	chr4:79695584-79697705	K562	blood:	n/a	n/a
5	USF2	chr4:79696379-79697277	Hela-S3	cervix:	n/a	chr4:79697101-79697112
6	USF1	chr4:79696622-79697372	SK-N-SH	brain:	n/a	n/a
7	YY1	chr4:79696671-79697207	H1-hESC	embryonic stem cell:	n/a	chr4:79697134-79697143 chr4:79697134-79697148
8	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
9	POLR2A	chr4:79696418-79697732	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:79696503-79697734	HCT-116	colon:	n/a	n/a
11	GABPA	chr4:79696665-79697369	SK-N-SH	brain:	n/a	chr4:79697150-79697159 chr4:79697148-79697162 chr4:79697148-79697159 chr4:79697145-79697159
12	USF1	chr4:79696754-79697309	A549	lung:	n/a	n/a
13	MAX	chr4:79696366-79697766	A549	lung:	n/a	chr4:79697385-79697395
14	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
15	POLR2A	chr4:79696412-79697683	ECC-1	luminal epithelium:	n/a	n/a
16	TBP	chr4:79696121-79697135	Hela-S3	cervix:	n/a	n/a
17	MAX	chr4:79696704-79697390	MCF-7	breast:	n/a	n/a
18	TAF1	chr4:79696429-79697734	H1-hESC	embryonic stem cell:	n/a	n/a
19	RELA	chr4:79695491-79697309	GM19099	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
20	USF1	chr4:79696678-79697289	HCT-116	colon:	n/a	n/a
21	E2F6	chr4:79696582-79697251	H1-hESC	embryonic stem cell:	n/a	chr4:79696890-79696907 chr4:79697134-79697143 chr4:79697149-79697158
22	TEAD4	chr4:79696442-79697153	K562	blood:	n/a	n/a
23	STAT1	chr4:79696735-79697556	GM12878	blood:	n/a	n/a
24	MAX	chr4:79696456-79697931	HepG2	liver:	n/a	chr4:79697385-79697395
25	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
26	MAX	chr4:79696389-79697807	HCT-116	colon:	n/a	chr4:79697385-79697395
27	POLR2A	chr4:79696144-79698368	GM15510	blood:	n/a	n/a
28	TBP	chr4:79696443-79698343	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZBTB7A	chr4:79696655-79697405	K562	blood:	n/a	n/a
30	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
31	ZMIZ1	chr4:79696451-79697703	K562	blood:	n/a	n/a
32	GTF2B	chr4:79696505-79697004	K562	blood:	n/a	n/a
33	RAD21	chr4:79696148-79696903	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr4:79696466-79697748	HepG2	liver:	n/a	n/a
35	MYC	chr4:79696324-79697719	K562	blood:	n/a	chr4:79697385-79697395
36	POLR2A	chr4:79696569-79697723	HCT-116	colon:	n/a	n/a
37	POLR2A	chr4:79696676-79697771	GM10847	blood:	n/a	n/a
38	CREB1	chr4:79696550-79697705	GM12878	blood:	n/a	n/a
39	CHD2	chr4:79696686-79697418	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:79696630-79697434	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr4:79696571-79697848	A549	lung:	n/a	n/a
42	SIN3AK20	chr4:79696612-79697494	MCF-7	breast:	n/a	n/a
43	POLR2A	chr4:79696396-79698547	HUVEC	blood vessel:	n/a	n/a
44	CREB1	chr4:79696500-79697364	H1-hESC	embryonic stem cell:	n/a	n/a
45	GABPA	chr4:79696626-79697412	SK-N-SH	brain:	n/a	chr4:79697150-79697159 chr4:79697148-79697162 chr4:79697148-79697159 chr4:79697145-79697159
46	POLR2A	chr4:79696066-79697822	K562	blood:	n/a	n/a
47	MYC	chr4:79696525-79697643	MCF10A-Er-Src	breast:	n/a	chr4:79697385-79697395
48	ATF2	chr4:79696278-79697078	GM12878	blood:	n/a	n/a
49	E2F6	chr4:79696575-79697700	K562	blood:	n/a	chr4:79697527-79697536 chr4:79696890-79696907 chr4:79697134-79697143 chr4:79697149-79697158
50	WRNIP1	chr4:79696475-79697107	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79696708-79696758	GM12891	blood:	n/a
2	chr4:79696708-79696758	U87	brain:	n/a
3	chr4:79696708-79696758	AoSMC	blood vessel:	n/a
4	chr4:79696708-79696758	HCPEpiC	choroid plexus:	n/a
5	chr4:79696708-79696758	HIPEpiC	eye:	n/a
6	chr4:79696708-79696758	HRCEpiC	kidney:	n/a
7	chr4:79696708-79696758	PrEC	prostate:	n/a
8	chr4:79696708-79696758	HRPEpiC	eye:	n/a
9	chr4:79696708-79696758	HCT-116	colon:	n/a
10	chr4:79696708-79696758	ECC-1	luminal epithelium:	n/a
11	chr4:79696708-79696758	AG09319	gingival:	n/a
12	chr4:79696708-79696758	CMK	blood:	n/a
13	chr4:79696708-79696758	Jurkat	blood:	n/a
14	chr4:79696708-79696758	HL-60	blood:	n/a
15	chr4:79696708-79696758	SK-N-SH	brain:	n/a
16	chr4:79696708-79696758	ProgFib	skin:	n/a
17	chr4:79696708-79696758	HCM	heart:	n/a
18	chr4:79696708-79696758	HepG2	liver:	n/a
19	chr4:79696708-79696758	H1-hESC	embryonic stem cell:	embryo
20	chr4:79696708-79696758	NH-A	brain:	n/a
21	chr4:79696708-79696758	SK-N-MC	brain:	n/a
22	chr4:79696708-79696758	AG10803	skin:	n/a
23	chr4:79696708-79696758	HCF	heart:	n/a
24	chr4:79696708-79696758	Caco-2	colon:	n/a
25	chr4:79696708-79696758	LNCaP	prostate:	n/a
26	chr4:79696708-79696758	NB4	blood:	n/a
27	chr4:79696708-79696758	HUVEC	blood vessel:	n/a
28	chr4:79696708-79696758	ovcar-3	ovarian:	n/a
29	chr4:79696708-79696758	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:79696708-79696758	AG09309	skin:	n/a
31	chr4:79696708-79696758	HEK293	kidney:	embryo
32	chr4:79696708-79696758	MCF10A-Er-Src	breast:	n/a
33	chr4:79696708-79696758	HNPCEpiC	eye:	n/a
34	chr4:79696708-79696758	T-47D	breast:	n/a
35	chr4:79696708-79696758	SKMC	muscle:	n/a
36	chr4:79696708-79696758	RPTEC	kidney:	n/a
37	chr4:79696708-79696758	GM12878	blood:	n/a
38	chr4:79696708-79696758	IMR90	lung:	fetal
39	chr4:79696708-79696758	HMEC	breast:	n/a
40	chr4:79696708-79696758	Hepatocyte	liver:	n/a
41	chr4:79696708-79696758	NHDF-neo	bronchial:	n/a
42	chr4:79696708-79696758	AG04449	skin:	fetal
43	chr4:79696708-79696758	MCF-7	breast:	n/a
44	chr4:79696708-79696758	GM19239	blood:	n/a
45	chr4:79696708-79696758	SK-N-SH_RA	brain:	n/a
46	chr4:79696708-79696758	HAEpiC	amniotic membrane:	n/a
47	chr4:79696708-79696758	PANC-1	pancreas:	n/a
48	chr4:79696708-79696758	Hela-S3	cervix:	n/a
49	chr4:79696708-79696758	PFSK-1	brain:	n/a
50	chr4:79696708-79696758	A549	lung:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79565619..79566154-chr4:79696280..79696883,2	MCF-7	breast:
5	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
6	chr4:79696515..79698358-chr4:79778442..79780983,2	K562	blood:
7	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
8	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
9	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR3-1	chr4:79694808-79697127	ENSG00000260278.1
2	lnc-PAQR3-1	chr4:79696609-79697054	NONHSAT097083

No data

Variant related genes	Relation type
BMP2K	TF binding region
BMP2K	CpG island
ENSG00000251019	Chromatin interaction
ENSG00000138772	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000138756	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3368249	chr4:79696578-79699076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:79696000-79696800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr4:79696000-79696800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:79696000-79697200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:79696000-79698000	Active TSS	Stomach Smooth Muscle	stomach
9	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
12	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:79696200-79696800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr4:79696200-79696800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr4:79696200-79696800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:79696200-79696800	Active TSS	Brain Germinal Matrix	brain
18	chr4:79696200-79696800	Flanking Active TSS	Fetal Thymus	thymus
19	chr4:79696200-79696800	Active TSS	Right Atrium	heart
20	chr4:79696200-79696800	Flanking Active TSS	Dnd41	blood
21	chr4:79696200-79696800	Flanking Active TSS	HMEC	breast
22	chr4:79696200-79697000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr4:79696200-79697000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:79696200-79697000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr4:79696200-79697000	ZNF genes & repeats	Fetal Brain Male	brain
26	chr4:79696200-79697000	Flanking Active TSS	HUVEC	blood vessel
27	chr4:79696200-79697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:79696200-79698000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr4:79696200-79698200	Active TSS	Brain Anterior Caudate	brain
30	chr4:79696200-79698200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:79696200-79698200	Active TSS	Colonic Mucosa	Colon
32	chr4:79696200-79698200	Active TSS	Duodenum Mucosa	Duodenum
33	chr4:79696200-79698400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr4:79696200-79698400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr4:79696200-79698600	Active TSS	Ovary	ovary
36	chr4:79696200-79698800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:79696200-79698800	Active TSS	Aorta	Aorta
40	chr4:79696200-79698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:79696200-79698800	Active TSS	A549	lung
42	chr4:79696200-79699000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:79696200-79699200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr4:79696200-79699200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr4:79696200-79699200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:79696200-79699200	Active TSS	Fetal Kidney	kidney
47	chr4:79696200-79699200	Active TSS	Fetal Muscle Trunk	muscle
48	chr4:79696200-79699200	Active TSS	Fetal Stomach	stomach
49	chr4:79696200-79699200	Active TSS	Psoas Muscle	Psoas
50	chr4:79696200-79699600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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