Variant report

Variant	rs558059532
Chromosome Location	chr14:64319926-64319927
allele	G/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	UBTF	chr14:64319529-64320220	K562	blood:	n/a	n/a
2	POLR2A	chr14:64319409-64320484	GM12878	blood:	n/a	n/a
3	CREB1	chr14:64319426-64319954	A549	lung:	n/a	n/a
4	POLR2A	chr14:64319381-64320478	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:64319390-64320239	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr14:64319536-64320835	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr14:64319380-64320412	GM19193	blood:	n/a	n/a
8	ZBTB7A	chr14:64319339-64320052	ECC-1	luminal epithelium:	n/a	n/a
9	TFAP2A	chr14:64319340-64321304	Hela-S3	cervix:	n/a	chr14:64320796-64320806 chr14:64319654-64319669 chr14:64320112-64320123 chr14:64321241-64321255 chr14:64320384-64320392 chr14:64320160-64320175 chr14:64320384-64320392 chr14:64320384-64320392 chr14:64320796-64320806 chr14:64320468-64320479 chr14:64320796-64320806
10	MAX	chr14:64319449-64321178	Hela-S3	cervix:	n/a	chr14:64320760-64320770 chr14:64320431-64320441
11	POLR2A	chr14:64319490-64320539	H1-neurons	neurons:	n/a	n/a
12	ELF1	chr14:64319358-64320444	GM12878	blood:	n/a	chr14:64319655-64319667 chr14:64320057-64320069 chr14:64319645-64319657 chr14:64320177-64320189 chr14:64319644-64319653
13	MXI1	chr14:64319006-64320504	IMR90	lung:	n/a	n/a
14	TAF1	chr14:64319351-64320042	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:64319441-64319951	A549	lung:	n/a	n/a
16	POLR2A	chr14:64319471-64320272	GM10847	blood:	n/a	n/a
17	POLR2A	chr14:64319456-64321010	MCF10A-Er-Src	breast:	n/a	n/a
18	HA-E2F1	chr14:64318993-64320964	MCF-7	breast:	n/a	chr14:64320675-64320692 chr14:64320299-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319695-64319706 chr14:64319658-64319667 chr14:64319683-64319694 chr14:64319776-64319783 chr14:64320500-64320509
19	TCF12	chr14:64319502-64320305	ECC-1	luminal epithelium:	n/a	n/a
20	EGR1	chr14:64319823-64320112	GM12878	blood:	n/a	chr14:64319966-64319980 chr14:64319930-64319944
21	TAF1	chr14:64319416-64320411	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr14:64319363-64320828	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:64319293-64319937	HEK293	kidney:	n/a	n/a
24	TAF1	chr14:64319374-64320311	MCF-7	breast:	n/a	n/a
25	SIN3A	chr14:64319129-64321148	H1-hESC	embryonic stem cell:	n/a	chr14:64320377-64320390 chr14:64319716-64319727 chr14:64320334-64320345 chr14:64320189-64320198
26	TAF1	chr14:64319077-64319935	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:64319520-64320166	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr14:64318943-64320899	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:64319439-64320500	GM12892	blood:	n/a	n/a
30	POLR2A	chr14:64319421-64320066	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr14:64319348-64320834	GM18951	blood:	n/a	n/a
32	POLR2A	chr14:64319144-64320055	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr14:64319388-64320349	GM18505	blood:	n/a	n/a
34	POLR2A	chr14:64319379-64320465	GM12878	blood:	n/a	n/a
35	E2F4	chr14:64319388-64320488	Hela-S3	cervix:	n/a	chr14:64320299-64320306 chr14:64320298-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319658-64319667 chr14:64319776-64319783
36	POLR2A	chr14:64319356-64320471	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr14:64319116-64321344	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:64319189-64319928	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMC3	chr14:64319417-64321230	Hela-S3	cervix:	n/a	chr14:64320113-64320127
40	NANOG	chr14:64319492-64319938	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:64319322-64321174	Raji	blood:	n/a	n/a
42	HA-E2F1	chr14:64319365-64320626	Hela-S3	cervix:	n/a	chr14:64320299-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319695-64319706 chr14:64319658-64319667 chr14:64319683-64319694 chr14:64319776-64319783 chr14:64320500-64320509
43	PAX5	chr14:64319453-64320541	GM12892	blood:	n/a	chr14:64320288-64320297 chr14:64319870-64319879
44	POLR2A	chr14:64319411-64320408	HCT-116	colon:	n/a	n/a
45	ZNF143	chr14:64319433-64320352	GM12878	blood:	n/a	chr14:64320153-64320171 chr14:64320090-64320108 chr14:64319651-64319661
46	MAX	chr14:64319241-64321006	A549	lung:	n/a	chr14:64320760-64320770 chr14:64320431-64320441
47	POLR2A	chr14:64319501-64321622	MCF10A-Er-Src	breast:	n/a	n/a
48	RCOR1	chr14:64319638-64320962	Hela-S3	cervix:	n/a	n/a
49	MAX	chr14:64319353-64320580	HepG2	liver:	n/a	chr14:64320431-64320441
50	POLR2A	chr14:64319339-64320878	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64319797..64321605-chr14:64466270..64468504,2	MCF-7	breast:
2	chr14:64319297..64320096-chr2:74425675..74426285,2	Hela-S3	cervix:
3	chr14:64319483..64322302-chr14:64328481..64332813,5	MCF-7	breast:
4	chr14:64319794..64321904-chr14:64361235..64363695,2	MCF-7	breast:
5	chr14:64319166..64320923-chr14:64328806..64331982,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202182	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3416242	chr14:64263248-64321769	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3368767	chr14:64268248-64321769	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3355344	chr14:64268248-64323934	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3341450	chr14:64318649-64321797	Bivalent Enhancer Enhancers Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
9	esv3439844	chr14:64318824-64321372	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3421724	chr14:64319224-64321772	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64318800-64321000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:64318800-64321200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:64318800-64321400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:64318800-64321800	Active TSS	Fetal Kidney	kidney
5	chr14:64318800-64322600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:64319000-64320800	Active TSS	Brain Hippocampus Middle	brain
7	chr14:64319000-64320800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr14:64319000-64320800	Active TSS	Colonic Mucosa	Colon
9	chr14:64319000-64321000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:64319000-64321000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:64319000-64321000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:64319000-64321000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:64319000-64321000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:64319000-64321000	Active TSS	Brain Anterior Caudate	brain
15	chr14:64319000-64321000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:64319000-64321000	Active TSS	Colon Smooth Muscle	Colon
17	chr14:64319000-64321000	Active TSS	Duodenum Mucosa	Duodenum
18	chr14:64319000-64321000	Active TSS	Fetal Intestine Small	intestine
19	chr14:64319000-64321000	Active TSS	Fetal Muscle Trunk	muscle
20	chr14:64319000-64321200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:64319000-64321200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:64319000-64321200	Active TSS	Brain Angular Gyrus	brain
23	chr14:64319000-64321200	Active TSS	Fetal Intestine Large	intestine
24	chr14:64319000-64321200	Active TSS	Pancreas	Pancrea
25	chr14:64319000-64321200	Active TSS	A549	lung
26	chr14:64319000-64321400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr14:64319000-64321400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:64319000-64321400	Active TSS	Right Ventricle	heart
29	chr14:64319000-64321800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:64319000-64321800	Active TSS	Brain Germinal Matrix	brain
31	chr14:64319000-64322200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr14:64319000-64322200	Active TSS	Fetal Brain Female	brain
33	chr14:64319200-64320600	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:64319200-64320800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:64319200-64320800	Active TSS	Muscle Satellite Cultured Cells	--
36	chr14:64319200-64320800	Active TSS	Brain Cingulate Gyrus	brain
37	chr14:64319200-64320800	Active TSS	Spleen	Spleen
38	chr14:64319200-64321000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:64319200-64321000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr14:64319200-64321000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr14:64319200-64321000	Active TSS	Thymus	Thymus
42	chr14:64319200-64321000	Active TSS	HSMM	muscle
43	chr14:64319200-64321200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:64319200-64321200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:64319200-64321200	Active TSS	Gastric	stomach
46	chr14:64319200-64321400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:64319200-64321400	Active TSS	Aorta	Aorta
48	chr14:64319200-64321400	Active TSS	Left Ventricle	heart
49	chr14:64319200-64321400	Active TSS	Lung	lung
50	chr14:64319200-64321400	Active TSS	Ovary	ovary

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