Variant report

Variant	rs565195764
Chromosome Location	chr14:55737652-55737653
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	CREB1	chr14:55737562-55739249	GM12878	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
2	CHD2	chr14:55737646-55738176	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr14:55737617-55738384	H1-hESC	embryonic stem cell:	n/a	chr14:55738064-55738077
4	ARID3A	chr14:55737609-55738095	K562	blood:	n/a	n/a
5	CTCF	chr14:55737341-55739139	SK-N-SH	brain:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55738332-55738345 chr14:55737996-55738009
6	MAX	chr14:55737628-55739204	A549	lung:	n/a	n/a
7	TAF1	chr14:55737650-55738332	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:55737447-55738293	HCT-116	colon:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
9	POLR2A	chr14:55737629-55738267	SK-N-MC	brain:	n/a	n/a
10	JUND	chr14:55737612-55738243	MCF-7	breast:	n/a	chr14:55738066-55738075
11	CTCF	chr14:55737652-55738199	T-47D	breast:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
12	PML	chr14:55737625-55738414	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:55737552-55739152	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr14:55737652-55739153	HepG2	liver:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
15	STAT3	chr14:55737541-55737700	MCF10A-Er-Src	breast:	n/a	n/a
16	CREB1	chr14:55737609-55739283	K562	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
17	MYBL2	chr14:55737598-55738322	HepG2	liver:	n/a	n/a
18	RAD21	chr14:55737526-55738384	SK-N-SH	brain:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
19	MTA3	chr14:55737631-55738260	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:55737590-55739065	GM12892	blood:	n/a	n/a
21	CHD1	chr14:55737375-55739517	IMR90	lung:	n/a	chr14:55738328-55738338 chr14:55738641-55738651
22	RCOR1	chr14:55737644-55738262	HepG2	liver:	n/a	n/a
23	CTCF	chr14:55737578-55738227	MCF-7	breast:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
24	POLR2A	chr14:55737637-55738355	HCT-116	colon:	n/a	n/a
25	CTCF	chr14:55737529-55738369	MCF-7	breast:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55738332-55738345 chr14:55737996-55738009
26	CTCF	chr14:55737318-55739114	A549	lung:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55738332-55738345 chr14:55737996-55738009
27	JUND	chr14:55737560-55738374	SK-N-SH	brain:	n/a	chr14:55738066-55738075
28	PML	chr14:55737569-55738073	K562	blood:	n/a	n/a
29	MAFK	chr14:55737652-55738170	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr14:55737584-55738283	HCT-116	colon:	n/a	n/a
31	CREB1	chr14:55737633-55738356	K562	blood:	n/a	chr14:55738064-55738077
32	POLR2A	chr14:55737616-55738278	SK-N-MC	brain:	n/a	n/a
33	BHLHE40	chr14:55737507-55738243	GM12878	blood:	n/a	chr14:55738225-55738241
34	MAZ	chr14:55737570-55739177	IMR90	lung:	n/a	n/a
35	JUN	chr14:55737633-55739285	K562	blood:	n/a	chr14:55738066-55738075 chr14:55738848-55738857
36	FOXM1	chr14:55737561-55738290	GM12878	blood:	n/a	n/a
37	CTCF	chr14:55737613-55738300	GM12878	blood:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
38	MYC	chr14:55737641-55738356	NB4	blood:	n/a	n/a
39	TEAD4	chr14:55737648-55738215	K562	blood:	n/a	n/a
40	MXI1	chr14:55737502-55739102	IMR90	lung:	n/a	n/a
41	YY1	chr14:55737593-55738249	H1-hESC	embryonic stem cell:	n/a	chr14:55738115-55738124 chr14:55738118-55738127 chr14:55738231-55738245
42	RUNX3	chr14:55737612-55738323	GM12878	blood:	n/a	n/a
43	NFATC1	chr14:55737638-55738195	GM12878	blood:	n/a	n/a
44	MAX	chr14:55737646-55739069	MCF-7	breast:	n/a	n/a
45	EP300	chr14:55737491-55738108	K562	blood:	n/a	chr14:55738002-55738011 chr14:55737967-55737981
46	HCFC1	chr14:55737087-55739264	Hela-S3	cervix:	n/a	n/a
47	POU2F2	chr14:55737646-55738362	GM12878	blood:	n/a	chr14:55737811-55737825 chr14:55737810-55737823 chr14:55737810-55737823 chr14:55737810-55737823 chr14:55738178-55738190
48	HEY1	chr14:55737642-55739067	K562	blood:	n/a	chr14:55738067-55738076 chr14:55738849-55738858 chr14:55738241-55738256 chr14:55738181-55738196 chr14:55738125-55738140 chr14:55738116-55738131 chr14:55738117-55738132 chr14:55738815-55738824 chr14:55738847-55738856 chr14:55738065-55738074 chr14:55738281-55738296
49	REST	chr14:55737640-55738229	A549	lung:	n/a	n/a
50	KAP1	chr14:55737641-55738063	U2OS	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55737629-55737679	NB4	blood:	n/a
2	chr14:55737629-55737679	HCF	heart:	n/a
3	chr14:55737629-55737679	CMK	blood:	n/a
4	chr14:55737629-55737679	GM12891	blood:	n/a
5	chr14:55737629-55737679	ProgFib	skin:	n/a
6	chr14:55737629-55737679	U87	brain:	n/a
7	chr14:55737629-55737679	IMR90	lung:	fetal
8	chr14:55737629-55737679	HCM	heart:	n/a
9	chr14:55737629-55737679	SK-N-SH_RA	brain:	n/a
10	chr14:55737629-55737679	NH-A	brain:	n/a
11	chr14:55737629-55737679	SK-N-SH	brain:	n/a
12	chr14:55737629-55737679	HEEpiC	esophagus:	n/a
13	chr14:55737629-55737679	T-47D	breast:	n/a
14	chr14:55737629-55737679	RPTEC	kidney:	n/a
15	chr14:55737629-55737679	AG04449	skin:	fetal
16	chr14:55737629-55737679	AG04450	lung:	fetal
17	chr14:55737629-55737679	NT2-D1	testis:	n/a
18	chr14:55737629-55737679	ECC-1	luminal epithelium:	n/a
19	chr14:55737629-55737679	AG09309	skin:	n/a
20	chr14:55737629-55737679	PANC-1	pancreas:	n/a
21	chr14:55737629-55737679	A549	lung:	n/a
22	chr14:55737629-55737679	GM12878	blood:	n/a
23	chr14:55737629-55737679	HL-60	blood:	n/a
24	chr14:55737629-55737679	HCT-116	colon:	n/a
25	chr14:55737629-55737679	HRE	kidney:	n/a
26	chr14:55737629-55737679	SAEC	small airway:	n/a
27	chr14:55737629-55737679	PrEC	prostate:	n/a
28	chr14:55737629-55737679	GM19239	blood:	n/a
29	chr14:55737629-55737679	GM12892	blood:	n/a
30	chr14:55737629-55737679	HepG2	liver:	n/a
31	chr14:55737629-55737679	MCF-7	breast:	n/a
32	chr14:55737629-55737679	HCPEpiC	choroid plexus:	n/a
33	chr14:55737629-55737679	PFSK-1	brain:	n/a
34	chr14:55737629-55737679	AG10803	skin:	n/a
35	chr14:55737629-55737679	GM06990	blood:	n/a
36	chr14:55737629-55737679	HUVEC	blood vessel:	n/a
37	chr14:55737629-55737679	MCF10A-Er-Src	breast:	n/a
38	chr14:55737629-55737679	HRPEpiC	eye:	n/a
39	chr14:55737629-55737679	HMEC	breast:	n/a
40	chr14:55737629-55737679	H1-hESC	embryonic stem cell:	embryo
41	chr14:55737629-55737679	Hela-S3	cervix:	n/a
42	chr14:55737629-55737679	HAEpiC	amniotic membrane:	n/a
43	chr14:55737629-55737679	K562	blood:	n/a
44	chr14:55737629-55737679	HEK293	kidney:	embryo
45	chr14:55737629-55737679	BJ	skin:	n/a
46	chr14:55737629-55737679	HIPEpiC	eye:	n/a
47	chr14:55737629-55737679	BE2_C	brain:	n/a
48	chr14:55737629-55737679	Caco-2	colon:	n/a
49	chr14:55737629-55737679	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:55737629-55737679	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55517347..55519818-chr14:55736283..55739378,3	MCF-7	breast:
2	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
3	chr14:55736450..55738716-chr14:55817481..55820238,2	K562	blood:
4	chr14:55737342..55739119-chr14:56046136..56048438,2	K562	blood:
5	chr14:55516892..55519791-chr14:55737278..55740152,4	K562	blood:
6	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
7	chr14:55705409..55707823-chr14:55736627..55738832,2	K562	blood:
8	chr14:55706045..55707823-chr14:55736335..55738127,2	K562	blood:
9	chr14:55736930..55738808-chr14:55763982..55767802,4	MCF-7	breast:
10	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
11	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:
12	chr14:55736296..55738259-chr14:55878149..55880015,2	MCF-7	breast:
13	chr14:55723404..55725998-chr14:55735499..55737800,2	K562	blood:

Variant related genes	Relation type
FBXO34	TF binding region
FBXO34	CpG island
ENSG00000126787	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000271180	Chromatin interaction
ENSG00000258469	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000186615	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000239199	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347717	chr14:55737449-55739397	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55734800-55737800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:55735000-55737800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:55735200-55737800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:55737400-55737800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:55737400-55737800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:55737400-55737800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr14:55737400-55737800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:55737400-55737800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr14:55737400-55737800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:55737400-55737800	Enhancers	Fetal Heart	heart
11	chr14:55737400-55737800	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr14:55737400-55737800	Flanking Active TSS	A549	lung
13	chr14:55737400-55737800	Flanking Active TSS	GM12878-XiMat	blood
14	chr14:55737400-55737800	Flanking Active TSS	HepG2	liver
15	chr14:55737400-55737800	Flanking Active TSS	HMEC	breast
16	chr14:55737400-55737800	Flanking Active TSS	K562	blood
17	chr14:55737400-55738000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:55737400-55738000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:55737400-55738000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:55737400-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:55737400-55739200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:55737400-55739400	Active TSS	Fetal Lung	lung
23	chr14:55737400-55739800	Active TSS	NHLF	lung
24	chr14:55737400-55741000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr14:55737600-55737800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:55737600-55737800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:55737600-55737800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr14:55737600-55737800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:55737600-55737800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:55737600-55737800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr14:55737600-55737800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:55737600-55737800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:55737600-55737800	Enhancers	Primary B cells from peripheral blood	blood
34	chr14:55737600-55737800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr14:55737600-55737800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:55737600-55737800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:55737600-55737800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:55737600-55737800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr14:55737600-55737800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr14:55737600-55737800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr14:55737600-55737800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:55737600-55737800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:55737600-55737800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:55737600-55737800	Flanking Active TSS	Liver	Liver
45	chr14:55737600-55737800	Enhancers	Brain Germinal Matrix	brain
46	chr14:55737600-55737800	Enhancers	Fetal Intestine Large	intestine
47	chr14:55737600-55737800	Enhancers	Fetal Intestine Small	intestine
48	chr14:55737600-55737800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr14:55737600-55737800	Enhancers	Placenta	Placenta
50	chr14:55737600-55737800	Flanking Active TSS	Fetal Stomach	stomach

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