Variant report

Variant	rs560482653
Chromosome Location	chr14:71787269-71787270
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	YY1	chr14:71786945-71787270	K562	blood:	n/a	n/a
2	POLR2A	chr14:71786853-71788718	HepG2	liver:	n/a	n/a
3	EGR1	chr14:71786840-71787820	H1-hESC	embryonic stem cell:	n/a	chr14:71787700-71787722 chr14:71787286-71787297 chr14:71787492-71787502 chr14:71787285-71787295 chr14:71787709-71787719 chr14:71787366-71787375 chr14:71787436-71787446 chr14:71786993-71787002 chr14:71787195-71787204 chr14:71787705-71787718 chr14:71787286-71787295 chr14:71787365-71787378 chr14:71787285-71787298 chr14:71787706-71787715 chr14:71787286-71787296 chr14:71787280-71787302 chr14:71787285-71787298 chr14:71787487-71787509 chr14:71787285-71787298 chr14:71787492-71787505 chr14:71787285-71787298 chr14:71787491-71787506 chr14:71787284-71787298 chr14:71787286-71787296
4	POLR2A	chr14:71786820-71788234	K562	blood:	n/a	n/a
5	POU2F2	chr14:71787116-71787353	GM12878	blood:	n/a	chr14:71787286-71787298
6	POLR2A	chr14:71787063-71787492	GM12891	blood:	n/a	n/a
7	HA-E2F1	chr14:71786862-71788310	Hela-S3	cervix:	n/a	chr14:71787710-71787719 chr14:71787014-71787024 chr14:71787285-71787295 chr14:71787361-71787373 chr14:71787926-71787935
8	POLR2A	chr14:71786724-71788644	ECC-1	luminal epithelium:	n/a	n/a
9	CHD2	chr14:71786665-71787435	K562	blood:	n/a	chr14:71787028-71787037
10	SP1	chr14:71786836-71787389	GM12878	blood:	n/a	chr14:71787364-71787373
11	TCF3	chr14:71787016-71787515	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:71786751-71788219	A549	lung:	n/a	n/a
13	POLR2A	chr14:71786919-71787968	K562	blood:	n/a	n/a
14	MAX	chr14:71786604-71788409	A549	lung:	n/a	chr14:71787309-71787319
15	POLR2A	chr14:71786722-71788947	Hela-S3	cervix:	n/a	n/a
16	ZNF143	chr14:71786952-71787387	K562	blood:	n/a	chr14:71787004-71787022
17	MAX	chr14:71786809-71787397	K562	blood:	n/a	chr14:71787309-71787319
18	POLR2A	chr14:71786827-71787468	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr14:71787132-71787277	GM12891	blood:	n/a	n/a
20	MAX	chr14:71787246-71787446	K562	blood:	n/a	chr14:71787309-71787319
21	POLR2A	chr14:71787103-71787460	A549	lung:	n/a	n/a
22	HEY1	chr14:71786910-71787465	HepG2	liver:	n/a	n/a
23	HCFC1	chr14:71786847-71787420	K562	blood:	n/a	n/a
24	POLR2A	chr14:71786738-71787433	SK-N-MC	brain:	n/a	n/a
25	RAD21	chr14:71786396-71787375	H1-hESC	embryonic stem cell:	n/a	chr14:71787005-71787018 chr14:71787277-71787290
26	RCOR1	chr14:71786509-71787418	GM12878	blood:	n/a	n/a
27	TAF1	chr14:71787015-71787366	GM12891	blood:	n/a	n/a
28	MXI1	chr14:71786388-71787382	GM12878	blood:	n/a	chr14:71786940-71786955 chr14:71786938-71786953
29	POLR2A	chr14:71786859-71787395	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr14:71786767-71787401	HepG2	liver:	n/a	chr14:71787284-71787298 chr14:71787285-71787299
31	TAF1	chr14:71786863-71787476	A549	lung:	n/a	n/a
32	MYC	chr14:71786853-71787437	MCF-7	breast:	n/a	chr14:71787309-71787319
33	POLR2A	chr14:71787012-71787404	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:71786630-71788232	HUVEC	blood vessel:	n/a	n/a
35	MAX	chr14:71786758-71787561	SK-N-SH	brain:	n/a	chr14:71787309-71787319
36	IRF1	chr14:71786875-71787397	K562	blood:	n/a	chr14:71786991-71787000
37	CCNT2	chr14:71786795-71788289	K562	blood:	n/a	chr14:71787977-71787986 chr14:71787390-71787399
38	REST	chr14:71786939-71787331	SK-N-SH	brain:	n/a	n/a
39	TAF1	chr14:71786691-71788586	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr14:71786769-71788029	HCT-116	colon:	n/a	n/a
41	GATA3	chr14:71786599-71787615	A549	lung:	n/a	chr14:71787333-71787343
42	PML	chr14:71786510-71789130	GM12878	blood:	n/a	chr14:71787820-71787828 chr14:71786649-71786657
43	POLR2A	chr14:71786553-71788996	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:71786698-71789008	GM12878	blood:	n/a	n/a
45	JUN	chr14:71786712-71787530	K562	blood:	n/a	chr14:71787516-71787525
46	SPI1	chr14:71786829-71787410	GM12891	blood:	n/a	chr14:71786993-71787006
47	HEY1	chr14:71786984-71787376	K562	blood:	n/a	n/a
48	EGR1	chr14:71786701-71788362	HCT-116	colon:	n/a	chr14:71788096-71788105 chr14:71787700-71787722 chr14:71787286-71787297 chr14:71787492-71787502 chr14:71787285-71787295 chr14:71787709-71787719 chr14:71787366-71787375 chr14:71787436-71787446 chr14:71786993-71787002 chr14:71788066-71788076 chr14:71787195-71787204 chr14:71787705-71787718 chr14:71787286-71787295 chr14:71787365-71787378 chr14:71787285-71787298 chr14:71788063-71788076 chr14:71788101-71788110 chr14:71787706-71787715 chr14:71787286-71787296 chr14:71788066-71788075 chr14:71787280-71787302 chr14:71787285-71787298 chr14:71787487-71787509 chr14:71787285-71787298 chr14:71787492-71787505 chr14:71787285-71787298 chr14:71787491-71787506 chr14:71787284-71787298 chr14:71787286-71787296 chr14:71787929-71787942
49	POLR2A	chr14:71786730-71788992	GM18526	blood:	n/a	n/a
50	REST	chr14:71787133-71787373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71786623..71788661-chr14:71864889..71866852,2	MCF-7	breast:
2	chr14:71608562..71610263-chr14:71786915..71789760,2	MCF-7	breast:
3	chr14:71647115..71649453-chr14:71786412..71788278,2	MCF-7	breast:
4	chr14:71787090..71788740-chr14:71796543..71798453,2	MCF-7	breast:
5	chr1:24127046..24127839-chr14:71786977..71787974,2	Hela-S3	cervix:
6	chr14:71776798..71778756-chr14:71785140..71789113,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP3K9-3	chr14:71786892-71787882	XLOC_011064

Variant related genes	Relation type
SIPA1L1	TF binding region
ENSG00000259079	Chromatin interaction
ENSG00000207444	Chromatin interaction
ENSG00000259907	Chromatin interaction
ENSG00000259146	Chromatin interaction
ENSG00000117308	Chromatin interaction
ENSG00000269927	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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv3405849	chr14:71786224-71789072	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3417213	chr14:71786699-71788597	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr14:71786000-71789200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:71786200-71788600	Active TSS	Fetal Stomach	stomach
3	chr14:71786200-71789000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:71786200-71789200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:71786200-71789200	Active TSS	Stomach Smooth Muscle	stomach
6	chr14:71786200-71789600	Active TSS	Rectal Smooth Muscle	rectum
7	chr14:71786200-71790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:71786400-71787400	Active TSS	Fetal Brain Male	brain
9	chr14:71786400-71787600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:71786400-71787800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:71786400-71788200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr14:71786400-71788200	Active TSS	Fetal Brain Female	brain
13	chr14:71786400-71788800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:71786400-71788800	Active TSS	Right Ventricle	heart
15	chr14:71786400-71789000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:71786400-71789000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:71786400-71789000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:71786400-71789000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:71786400-71789000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:71786400-71789000	Active TSS	Colonic Mucosa	Colon
21	chr14:71786400-71789000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:71786400-71789000	Active TSS	Right Atrium	heart
23	chr14:71786400-71789200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:71786400-71789400	Active TSS	Brain Angular Gyrus	brain
25	chr14:71786400-71789600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:71786400-71789800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:71786400-71789800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr14:71786400-71790000	Active TSS	Brain Hippocampus Middle	brain
29	chr14:71786400-71790000	Active TSS	HSMM	muscle
30	chr14:71786400-71790000	Active TSS	HSMMtube	muscle
31	chr14:71786400-71790200	Active TSS	Stomach Mucosa	stomach
32	chr14:71786600-71787400	Active TSS	Fetal Muscle Trunk	muscle
33	chr14:71786600-71788400	Active TSS	A549	lung
34	chr14:71786600-71788400	Active TSS	K562	blood
35	chr14:71786600-71788600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:71786600-71788600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:71786600-71788600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:71786600-71788600	Active TSS	Fetal Lung	lung
39	chr14:71786600-71788600	Active TSS	Gastric	stomach
40	chr14:71786600-71788600	Active TSS	Lung	lung
41	chr14:71786600-71788800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:71786600-71788800	Active TSS	Brain Cingulate Gyrus	brain
43	chr14:71786600-71788800	Active TSS	Pancreas	Pancrea
44	chr14:71786600-71788800	Active TSS	Placenta Amnion	Placenta Amnion
45	chr14:71786600-71788800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr14:71786600-71788800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr14:71786600-71789000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:71786600-71789000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr14:71786600-71789000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr14:71786600-71789000	Active TSS	Esophagus	oesophagus

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