Variant report

Variant	rs142999509
Chromosome Location	chr14:55738194-55738195
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	CREB1	chr14:55737562-55739249	GM12878	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
2	YY1	chr14:55737787-55738284	ECC-1	luminal epithelium:	n/a	chr14:55738115-55738124 chr14:55738118-55738127 chr14:55738231-55738245
3	POLR2A	chr14:55737746-55738385	H1-neurons	neurons:	n/a	n/a
4	TAF1	chr14:55737835-55738309	A549	lung:	n/a	n/a
5	GATA3	chr14:55737728-55738208	T-47D	breast:	n/a	n/a
6	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
7	JUND	chr14:55737815-55738295	A549	lung:	n/a	chr14:55738066-55738075
8	RFX5	chr14:55737802-55738297	HepG2	liver:	n/a	n/a
9	ZBTB7A	chr14:55737736-55738939	ECC-1	luminal epithelium:	n/a	chr14:55738001-55738010
10	CREB1	chr14:55737617-55738384	H1-hESC	embryonic stem cell:	n/a	chr14:55738064-55738077
11	POLR2A	chr14:55737768-55739018	GM18951	blood:	n/a	n/a
12	ATF2	chr14:55737660-55738235	H1-hESC	embryonic stem cell:	n/a	chr14:55738065-55738076
13	CHD2	chr14:55737715-55739000	GM12878	blood:	n/a	chr14:55738328-55738338 chr14:55738641-55738651
14	POLR2A	chr14:55737853-55738306	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:55737835-55738242	K562	blood:	n/a	n/a
16	CTCF	chr14:55737698-55738227	H1-hESC	embryonic stem cell:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
17	MAX	chr14:55737733-55738385	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr14:55737720-55738199	GM12878	blood:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
19	MAZ	chr14:55737750-55738307	GM12878	blood:	n/a	n/a
20	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
21	RAD21	chr14:55737670-55738280	A549	lung:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
22	TAF1	chr14:55737992-55738222	GM12878	blood:	n/a	n/a
23	MYC	chr14:55738134-55738281	HUVEC	blood vessel:	n/a	n/a
24	CCNT2	chr14:55737795-55738938	K562	blood:	n/a	chr14:55738031-55738040 chr14:55738330-55738339
25	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
26	POLR2A	chr14:55737861-55739000	GM19193	blood:	n/a	n/a
27	MAZ	chr14:55737822-55738288	HepG2	liver:	n/a	n/a
28	FOXA1	chr14:55737754-55738206	T-47D	breast:	n/a	n/a
29	MAX	chr14:55737628-55739204	A549	lung:	n/a	n/a
30	TAF1	chr14:55737650-55738332	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:55737447-55738293	HCT-116	colon:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55737996-55738009
32	NFYB	chr14:55737883-55738250	GM12878	blood:	n/a	n/a
33	NFIC	chr14:55737769-55738312	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:55737629-55738267	SK-N-MC	brain:	n/a	n/a
35	NANOG	chr14:55737798-55738266	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:55737811-55739038	MCF-7	breast:	n/a	n/a
37	POLR2A	chr14:55737986-55738348	GM12892	blood:	n/a	n/a
38	RFX5	chr14:55737838-55738200	K562	blood:	n/a	n/a
39	CREB1	chr14:55737712-55738243	A549	lung:	n/a	chr14:55738064-55738077
40	STAT5A	chr14:55737698-55738224	GM12878	blood:	n/a	chr14:55737977-55737989
41	RAD21	chr14:55737804-55738195	H1-hESC	embryonic stem cell:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
42	RAD21	chr14:55737661-55738234	MCF-7	breast:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010
43	ELF1	chr14:55737681-55738340	GM12878	blood:	n/a	chr14:55738232-55738244 chr14:55738118-55738127 chr14:55738175-55738187
44	GATA1	chr14:55737709-55738258	PBDE	blood:	n/a	n/a
45	FOSL2	chr14:55737666-55738239	A549	lung:	n/a	chr14:55738066-55738075
46	POLR2A	chr14:55737734-55738356	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr14:55737658-55738297	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr14:55737805-55738932	GM19099	blood:	n/a	n/a
49	MAZ	chr14:55737733-55739071	K562	blood:	n/a	n/a
50	RAD21	chr14:55737680-55738299	H1-hESC	embryonic stem cell:	n/a	chr14:55737999-55738011 chr14:55737927-55737946 chr14:55737999-55738009 chr14:55737994-55738013 chr14:55737997-55738010

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	chr14:55736930..55738808-chr14:55763982..55767802,4	MCF-7	breast:
11	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
12	chr14:55737940..55739664-chr14:55764646..55766801,2	MCF-7	breast:
13	chr14:55664630..55666911-chr14:55737863..55740088,2	K562	blood:
14	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:
15	chr14:55736296..55738259-chr14:55878149..55880015,2	MCF-7	breast:

Variant related genes	Relation type
FBXO34	TF binding region
ENSG00000258413	TF binding region
ENSG00000178974	Chromatin interaction
ENSG00000258469	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000069869	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000258050	Chromatin interaction
ENSG00000186908	Chromatin interaction
ENSG00000239199	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000271180	Chromatin interaction
ENSG00000126787	Chromatin interaction
ENSG00000186615	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737400-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55737400-55739200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:55737400-55739400	Active TSS	Fetal Lung	lung
4	chr14:55737400-55739800	Active TSS	NHLF	lung
5	chr14:55737400-55741000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:55737600-55738400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:55737600-55738400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:55737600-55738400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:55737600-55739000	Active TSS	Primary B cells from cord blood	blood
10	chr14:55737600-55739000	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:55737600-55739000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr14:55737600-55739200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:55737600-55739200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr14:55737600-55739200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:55737600-55739200	Active TSS	Aorta	Aorta
16	chr14:55737600-55739200	Active TSS	Brain Hippocampus Middle	brain
17	chr14:55737600-55739200	Active TSS	Brain Substantia Nigra	brain
18	chr14:55737600-55739200	Active TSS	Colon Smooth Muscle	Colon
19	chr14:55737600-55739200	Active TSS	Duodenum Mucosa	Duodenum
20	chr14:55737600-55739200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:55737600-55739200	Active TSS	Fetal Muscle Trunk	muscle
22	chr14:55737600-55739200	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:55737600-55739400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:55737600-55739400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr14:55737600-55739600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:55737600-55739600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:55737600-55739600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:55737600-55739600	Active TSS	Esophagus	oesophagus
29	chr14:55737600-55739600	Active TSS	Fetal Thymus	thymus
30	chr14:55737600-55739600	Active TSS	Lung	lung
31	chr14:55737600-55739600	Active TSS	Hela-S3	cervix
32	chr14:55737600-55739800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:55737600-55740000	Active TSS	Colonic Mucosa	Colon
34	chr14:55737600-55740600	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:55737600-55740800	Active TSS	Brain Anterior Caudate	brain
36	chr14:55737600-55741000	Active TSS	Psoas Muscle	Psoas
37	chr14:55737600-55741000	Active TSS	Right Ventricle	heart
38	chr14:55737600-55741200	Active TSS	Brain Angular Gyrus	brain
39	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:55737800-55738400	Weak transcription	Fetal Intestine Large	intestine
41	chr14:55737800-55738600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:55737800-55738600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:55737800-55738600	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr14:55737800-55738600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr14:55737800-55738600	Weak transcription	Fetal Heart	heart
46	chr14:55737800-55738600	Active TSS	HepG2	liver
47	chr14:55737800-55738800	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:55737800-55738800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:55737800-55738800	Active TSS	Adipose Nuclei	Adipose
50	chr14:55737800-55739000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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