Variant report

Variant	rs553600697
Chromosome Location	chr14:65347011-65347012
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	HA-E2F1	chr14:65346862-65347586	MCF-7	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65346872-65346881 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
2	POLR2A	chr14:65346319-65347765	H1-neurons	neurons:	n/a	n/a
3	REST	chr14:65346792-65347687	H1-neurons	neurons:	n/a	chr14:65346883-65346896 chr14:65347260-65347273 chr14:65347170-65347180 chr14:65346880-65346893
4	PBX3	chr14:65346509-65347091	SK-N-SH	brain:	n/a	chr14:65346801-65346810
5	E2F4	chr14:65346618-65347532	K562	blood:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65346872-65346881 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65346769-65346779 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
6	EGR1	chr14:65346463-65347093	K562	blood:	n/a	chr14:65346783-65346798 chr14:65346784-65346797 chr14:65346785-65346796 chr14:65346723-65346737 chr14:65346872-65346882
7	CTCF	chr14:65346920-65347070	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr14:65346990-65347022	H1-hESC	embryonic stem cell:	n/a	n/a
9	RCOR1	chr14:65345983-65347702	K562	blood:	n/a	n/a
10	MAX	chr14:65346509-65347720	MCF-7	breast:	n/a	n/a
11	GATA1	chr14:65346105-65348005	PBDE	blood:	n/a	chr14:65346999-65347007 chr14:65347950-65347960
12	POLR2A	chr14:65343221-65348246	PBDE	blood:	n/a	n/a
13	POLR2A	chr14:65346950-65347503	SK-N-MC	brain:	n/a	n/a
14	MAZ	chr14:65346709-65347344	GM12878	blood:	n/a	n/a
15	HMGN3	chr14:65345858-65347744	K562	blood:	n/a	n/a
16	MAZ	chr14:65345829-65347665	K562	blood:	n/a	n/a
17	CTCF	chr14:65346920-65347070	HUVEC	blood vessel:	n/a	n/a
18	HDAC2	chr14:65346460-65347671	MCF-7	breast:	n/a	chr14:65347601-65347609
19	TAF1	chr14:65346573-65347208	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:65346934-65347036	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:65346920-65347070	GM12867	blood:	n/a	n/a
22	SIN3A	chr14:65346663-65347730	H1-hESC	embryonic stem cell:	n/a	chr14:65346763-65346776 chr14:65346880-65346893
23	POLR2A	chr14:65346480-65347751	H1-neurons	neurons:	n/a	n/a
24	EGR1	chr14:65346420-65347023	ECC-1	luminal epithelium:	n/a	chr14:65346783-65346798 chr14:65346784-65346797 chr14:65346785-65346796 chr14:65346723-65346737 chr14:65346872-65346882
25	MAX	chr14:65346590-65347327	ECC-1	luminal epithelium:	n/a	n/a
26	JUND	chr14:65346588-65347445	K562	blood:	n/a	chr14:65346803-65346812 chr14:65346873-65346882
27	UBTF	chr14:65345919-65347318	K562	blood:	n/a	n/a
28	ZBTB7A	chr14:65346348-65347376	ECC-1	luminal epithelium:	n/a	chr14:65346408-65346417
29	POLR2A	chr14:65346452-65347600	K562	blood:	n/a	n/a
30	POLR2A	chr14:65346374-65347512	K562	blood:	n/a	n/a
31	E2F4	chr14:65346881-65347760	MCF10A-Er-Src	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
32	EGR1	chr14:65346570-65347083	MCF-7	breast:	n/a	chr14:65346783-65346798 chr14:65346784-65346797 chr14:65346785-65346796 chr14:65346723-65346737 chr14:65346872-65346882
33	POLR2A	chr14:65345882-65347571	K562	blood:	n/a	n/a
34	MYC	chr14:65346354-65347660	K562	blood:	n/a	n/a
35	MAZ	chr14:65346954-65347384	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr14:65346960-65347110	HEK293	kidney:	n/a	n/a
37	SP1	chr14:65346993-65347495	H1-hESC	embryonic stem cell:	n/a	chr14:65347260-65347269 chr14:65347259-65347271 chr14:65347260-65347274 chr14:65347237-65347246 chr14:65347236-65347247 chr14:65347236-65347248 chr14:65347259-65347271 chr14:65347261-65347270 chr14:65347260-65347270 chr14:65347259-65347270 chr14:65347226-65347240 chr14:65347260-65347270
38	CTCF	chr14:65346960-65347110	SK-N-SH_RA	brain:	n/a	n/a
39	EGR1	chr14:65346349-65347596	HCT-116	colon:	n/a	chr14:65346783-65346798 chr14:65347104-65347114 chr14:65346784-65346797 chr14:65347105-65347115 chr14:65347232-65347245 chr14:65346785-65346796 chr14:65346723-65346737 chr14:65346872-65346882
40	CTCF	chr14:65346960-65347110	Caco-2	colon:	n/a	n/a
41	POLR2A	chr14:65346424-65347536	K562	blood:	n/a	n/a
42	CTCF	chr14:65346940-65347090	A549	lung:	n/a	n/a
43	E2F6	chr14:65346922-65347318	K562	blood:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65347034-65347041 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
44	CCNT2	chr14:65345877-65347531	K562	blood:	n/a	chr14:65347261-65347270
45	ZBTB7A	chr14:65345814-65347072	ECC-1	luminal epithelium:	n/a	chr14:65346408-65346417
46	TBP	chr14:65346512-65347667	K562	blood:	n/a	n/a
47	MAX	chr14:65346911-65347619	A549	lung:	n/a	n/a
48	ZBTB7A	chr14:65346494-65347468	K562	blood:	n/a	n/a
49	EGR1	chr14:65346438-65347073	MCF-7	breast:	n/a	chr14:65346783-65346798 chr14:65346784-65346797 chr14:65346785-65346796 chr14:65346723-65346737 chr14:65346872-65346882
50	MYC	chr14:65346461-65347619	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
3	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000126804	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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
3	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
6	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:65345400-65347800	Active TSS	Right Atrium	heart
8	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
12	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
13	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:65345800-65347400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:65345800-65347400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:65345800-65347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:65345800-65347600	Active TSS	Brain Substantia Nigra	brain
18	chr14:65345800-65347800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr14:65345800-65347800	Active TSS	Right Ventricle	heart
20	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
21	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:65346000-65347400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr14:65346000-65347400	Bivalent/Poised TSS	Esophagus	oesophagus
24	chr14:65346000-65347400	Active TSS	Fetal Kidney	kidney
25	chr14:65346000-65347400	Active TSS	Gastric	stomach
26	chr14:65346000-65347600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:65346000-65347600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:65346000-65347600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:65346000-65347600	Active TSS	K562	blood
30	chr14:65346000-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:65346000-65347800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr14:65346000-65347800	Active TSS	Aorta	Aorta
33	chr14:65346000-65348000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:65346000-65348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:65346000-65348000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:65346000-65348000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:65346200-65347200	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr14:65346200-65347200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr14:65346200-65347200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:65346200-65347200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:65346200-65347200	Active TSS	Duodenum Mucosa	Duodenum
42	chr14:65346200-65347200	Active TSS	Lung	lung
43	chr14:65346200-65347400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:65346200-65347400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr14:65346200-65347400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:65346200-65347400	Active TSS	Primary T cells from cord blood	blood
47	chr14:65346200-65347400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr14:65346200-65347400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr14:65346200-65347400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:65346200-65347400	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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