Variant report

Variant	rs553137971
Chromosome Location	chr14:55737973-55737974
allele	C/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	CHD2	chr14:55737874-55738180	K562	blood:	n/a	n/a
2	CREB1	chr14:55737562-55739249	GM12878	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
3	CHD2	chr14:55737646-55738176	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr14:55737860-55738010	HA-sp	spinal cord:	n/a	chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
5	YY1	chr14:55737787-55738284	ECC-1	luminal epithelium:	n/a	chr14:55738115-55738124 chr14:55738118-55738127 chr14:55738231-55738245
6	POLR2A	chr14:55737746-55738385	H1-neurons	neurons:	n/a	n/a
7	TAF1	chr14:55737835-55738309	A549	lung:	n/a	n/a
8	CTCF	chr14:55737798-55738190	A549	lung:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
9	CTCF	chr14:55737920-55738070	AG09309	skin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
10	GATA3	chr14:55737728-55738208	T-47D	breast:	n/a	n/a
11	REST	chr14:55737816-55738184	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr14:55737802-55738128	ProgFib	skin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
13	SP1	chr14:55737692-55738272	H1-hESC	embryonic stem cell:	n/a	chr14:55738030-55738039 chr14:55738031-55738040 chr14:55737982-55737995 chr14:55738029-55738041 chr14:55738030-55738040 chr14:55738029-55738041 chr14:55737979-55737990 chr14:55737981-55737990
14	JUND	chr14:55737815-55738295	A549	lung:	n/a	chr14:55738066-55738075
15	MYC	chr14:55737936-55738141	HepG2	liver:	n/a	n/a
16	CTCF	chr14:55737880-55738030	MCF-7	breast:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
17	CTCF	chr14:55737860-55738010	GM12878	blood:	n/a	chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
18	RFX5	chr14:55737802-55738297	HepG2	liver:	n/a	n/a
19	ZBTB7A	chr14:55737736-55738939	ECC-1	luminal epithelium:	n/a	chr14:55738001-55738010
20	CREB1	chr14:55737617-55738384	H1-hESC	embryonic stem cell:	n/a	chr14:55738064-55738077
21	POLR2A	chr14:55737768-55739018	GM18951	blood:	n/a	n/a
22	ATF2	chr14:55737660-55738235	H1-hESC	embryonic stem cell:	n/a	chr14:55738065-55738076
23	STAT3	chr14:55737902-55738091	MCF10A-Er-Src	breast:	n/a	chr14:55737977-55737989
24	FOS	chr14:55737827-55738102	MCF10A-Er-Src	breast:	n/a	chr14:55738066-55738075
25	CHD2	chr14:55737715-55739000	GM12878	blood:	n/a	chr14:55738328-55738338 chr14:55738641-55738651
26	TEAD4	chr14:55737762-55738119	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF7L2	chr14:55737828-55738121	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:55737853-55738306	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:55737835-55738242	K562	blood:	n/a	n/a
30	CTCF	chr14:55737698-55738227	H1-hESC	embryonic stem cell:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
31	CTCF	chr14:55737860-55738010	BE2_C	brain:	n/a	chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
32	CTCF	chr14:55737880-55738030	NHEK	skin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
33	MAX	chr14:55737733-55738385	SK-N-SH	brain:	n/a	n/a
34	RAD21	chr14:55737720-55738199	GM12878	blood:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
35	MAZ	chr14:55737750-55738307	GM12878	blood:	n/a	n/a
36	EP300	chr14:55737790-55738252	K562	blood:	n/a	chr14:55738002-55738011 chr14:55738116-55738125 chr14:55738119-55738135 chr14:55737967-55737981 chr14:55738177-55738193 chr14:55738157-55738170
37	RAD21	chr14:55737670-55738280	A549	lung:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
38	ARID3A	chr14:55737609-55738095	K562	blood:	n/a	n/a
39	CTCF	chr14:55737798-55738181	Lung_OC	lung:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
40	USF1	chr14:55737738-55738143	A549	lung:	n/a	n/a
41	EP300	chr14:55737683-55738191	GM12878	blood:	n/a	chr14:55738002-55738011 chr14:55738116-55738125 chr14:55738119-55738135 chr14:55737967-55737981 chr14:55738157-55738170
42	EGR1	chr14:55737681-55738110	K562	blood:	n/a	n/a
43	CCNT2	chr14:55737795-55738938	K562	blood:	n/a	chr14:55738031-55738040 chr14:55738330-55738339
44	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
45	POLR2A	chr14:55737861-55739000	GM19193	blood:	n/a	n/a
46	CTCF	chr14:55737880-55738030	HFF-Myc	foreskin:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
47	MAZ	chr14:55737822-55738288	HepG2	liver:	n/a	n/a
48	FOXA1	chr14:55737754-55738206	T-47D	breast:	n/a	n/a
49	MAX	chr14:55737628-55739204	A549	lung:	n/a	n/a
50	TAF1	chr14:55737650-55738332	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55737941-55737991	ovcar-3	ovarian:	n/a
2	chr14:55737941-55737991	HUVEC	blood vessel:	n/a
3	chr14:55737941-55737991	HRCEpiC	kidney:	n/a
4	chr14:55737941-55737991	GM12891	blood:	n/a
5	chr14:55737941-55737991	LNCaP	prostate:	n/a
6	chr14:55737941-55737991	ECC-1	luminal epithelium:	n/a
7	chr14:55737941-55737991	HIPEpiC	eye:	n/a
8	chr14:55737941-55737991	AoSMC	blood vessel:	n/a
9	chr14:55737941-55737991	BJ	skin:	n/a
10	chr14:55737941-55737991	AG09309	skin:	n/a
11	chr14:55737941-55737991	HRE	kidney:	n/a
12	chr14:55737941-55737991	GM19239	blood:	n/a
13	chr14:55737941-55737991	NB4	blood:	n/a
14	chr14:55737941-55737991	BE2_C	brain:	n/a
15	chr14:55737941-55737991	PANC-1	pancreas:	n/a
16	chr14:55737941-55737991	HCT-116	colon:	n/a
17	chr14:55737941-55737991	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:55737941-55737991	Hela-S3	cervix:	n/a
19	chr14:55737941-55737991	T-47D	breast:	n/a
20	chr14:55737941-55737991	AG10803	skin:	n/a
21	chr14:55737941-55737991	GM06990	blood:	n/a
22	chr14:55737941-55737991	CMK	blood:	n/a
23	chr14:55737941-55737991	HEEpiC	esophagus:	n/a
24	chr14:55737941-55737991	NH-A	brain:	n/a
25	chr14:55737941-55737991	HRPEpiC	eye:	n/a
26	chr14:55737941-55737991	SK-N-SH	brain:	n/a
27	chr14:55737941-55737991	HCPEpiC	choroid plexus:	n/a
28	chr14:55737941-55737991	IMR90	lung:	fetal
29	chr14:55737941-55737991	MCF10A-Er-Src	breast:	n/a
30	chr14:55737941-55737991	ProgFib	skin:	n/a
31	chr14:55737941-55737991	NHBE	bronchial:	n/a
32	chr14:55737941-55737991	SAEC	small airway:	n/a
33	chr14:55737941-55737991	Jurkat	blood:	n/a
34	chr14:55737941-55737991	K562	blood:	n/a
35	chr14:55737941-55737991	HMEC	breast:	n/a
36	chr14:55737941-55737991	MCF-7	breast:	n/a
37	chr14:55737941-55737991	HNPCEpiC	eye:	n/a
38	chr14:55737941-55737991	RPTEC	kidney:	n/a
39	chr14:55737941-55737991	A549	lung:	n/a
40	chr14:55737941-55737991	Caco-2	colon:	n/a
41	chr14:55737941-55737991	GM12878	blood:	n/a
42	chr14:55737941-55737991	AG04450	lung:	fetal
43	chr14:55737941-55737991	GM12892	blood:	n/a
44	chr14:55737941-55737991	HEK293	kidney:	embryo
45	chr14:55737941-55737991	Hepatocyte	liver:	n/a
46	chr14:55737941-55737991	HCM	heart:	n/a
47	chr14:55737941-55737991	SK-N-MC	brain:	n/a
48	chr14:55737941-55737991	HL-60	blood:	n/a
49	chr14:55737941-55737991	AG09319	gingival:	n/a
50	chr14:55737941-55737991	HAEpiC	amniotic membrane:	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	chr14:55737712..55738366-chr15:56285235..56286222,2	Hela-S3	cervix:
4	chr14:55736450..55738716-chr14:55817481..55820238,2	K562	blood:
5	chr14:55737342..55739119-chr14:56046136..56048438,2	K562	blood:
6	chr14:55516892..55519791-chr14:55737278..55740152,4	K562	blood:
7	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
8	chr14:55705409..55707823-chr14:55736627..55738832,2	K562	blood:
9	chr12:77157369..77158369-chr14:55737768..55738541,2	Hela-S3	cervix:
10	chr14:55706045..55707823-chr14:55736335..55738127,2	K562	blood:
11	chr14:55736930..55738808-chr14:55763982..55767802,4	MCF-7	breast:
12	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
13	chr14:55737940..55739664-chr14:55764646..55766801,2	MCF-7	breast:
14	chr14:55664630..55666911-chr14:55737863..55740088,2	K562	blood:
15	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:
16	chr14:55736296..55738259-chr14:55878149..55880015,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP5-4	chr14:55737863-55738026	ENSG00000258413

Variant related genes	Relation type
FBXO34	TF binding region
FBXO34	CpG island
ENSG00000178974	Chromatin interaction
ENSG00000258050	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000271180	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000239199	Chromatin interaction
ENSG00000069869	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000186615	Chromatin interaction
ENSG00000258469	Chromatin interaction
ENSG00000126787	Chromatin interaction
ENSG00000186908	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	chr14:55737400-55738000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:55737400-55738000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr14:55737400-55738000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:55737400-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:55737400-55739200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:55737400-55739400	Active TSS	Fetal Lung	lung
7	chr14:55737400-55739800	Active TSS	NHLF	lung
8	chr14:55737400-55741000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr14:55737600-55738000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:55737600-55738000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:55737600-55738000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:55737600-55738000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr14:55737600-55738000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr14:55737600-55738000	Enhancers	Primary T cells from cord blood	blood
15	chr14:55737600-55738000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:55737600-55738000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:55737600-55738000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:55737600-55738000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr14:55737600-55738000	Flanking Active TSS	Fetal Kidney	kidney
20	chr14:55737600-55738000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr14:55737600-55738000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr14:55737600-55738000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:55737600-55738000	Enhancers	Small Intestine	intestine
24	chr14:55737600-55738000	Enhancers	Spleen	Spleen
25	chr14:55737600-55738000	Flanking Active TSS	Dnd41	blood
26	chr14:55737600-55738000	Flanking Active TSS	HUVEC	blood vessel
27	chr14:55737600-55738000	Flanking Active TSS	NHEK	skin
28	chr14:55737600-55738400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:55737600-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:55737600-55738400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:55737600-55739000	Active TSS	Primary B cells from cord blood	blood
32	chr14:55737600-55739000	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:55737600-55739000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr14:55737600-55739200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr14:55737600-55739200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:55737600-55739200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr14:55737600-55739200	Active TSS	Aorta	Aorta
38	chr14:55737600-55739200	Active TSS	Brain Hippocampus Middle	brain
39	chr14:55737600-55739200	Active TSS	Brain Substantia Nigra	brain
40	chr14:55737600-55739200	Active TSS	Colon Smooth Muscle	Colon
41	chr14:55737600-55739200	Active TSS	Duodenum Mucosa	Duodenum
42	chr14:55737600-55739200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr14:55737600-55739200	Active TSS	Fetal Muscle Trunk	muscle
44	chr14:55737600-55739200	Active TSS	Stomach Smooth Muscle	stomach
45	chr14:55737600-55739400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:55737600-55739400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:55737600-55739600	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr14:55737600-55739600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:55737600-55739600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:55737600-55739600	Active TSS	Esophagus	oesophagus

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