Variant report

Variant	rs559453520
Chromosome Location	chr14:64319531-64319532
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	UBTF	chr14:64319529-64320220	K562	blood:	n/a	n/a
2	RAD21	chr14:64319431-64319799	GM12878	blood:	n/a	n/a
3	CTCF	chr14:64319460-64319610	GM06990	blood:	n/a	n/a
4	POLR2A	chr14:64319409-64320484	GM12878	blood:	n/a	n/a
5	CTCF	chr14:64319522-64319684	GM10248	blood:	n/a	n/a
6	POLR2A	chr14:64319408-64319887	HepG2	liver:	n/a	n/a
7	E2F6	chr14:64319472-64319747	K562	blood:	n/a	chr14:64319654-64319663 chr14:64319658-64319670 chr14:64319658-64319667
8	CTCF	chr14:64319500-64319650	GM12870	blood:	n/a	n/a
9	CREB1	chr14:64319426-64319954	A549	lung:	n/a	n/a
10	POLR2A	chr14:64319381-64320478	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:64319390-64320239	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:64319520-64319670	GM12869	blood:	n/a	n/a
13	RAD21	chr14:64319437-64319842	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:64319380-64320412	GM19193	blood:	n/a	n/a
15	RAD21	chr14:64319385-64319858	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr14:64319339-64320052	ECC-1	luminal epithelium:	n/a	n/a
17	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
18	MAX	chr14:64319449-64321178	Hela-S3	cervix:	n/a	chr14:64320760-64320770 chr14:64320431-64320441
19	CTCF	chr14:64319500-64319650	WERI-Rb-1	eye:	n/a	n/a
20	POLR2A	chr14:64319441-64319890	A549	lung:	n/a	n/a
21	CTCF	chr14:64319491-64319661	SK-N-SH_RA	brain:	n/a	n/a
22	TAF1	chr14:64319415-64319923	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:64319500-64319650	AG09319	gingival:	n/a	n/a
24	TCF3	chr14:64319516-64319892	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:64319490-64320539	H1-neurons	neurons:	n/a	n/a
26	ELF1	chr14:64319358-64320444	GM12878	blood:	n/a	chr14:64319655-64319667 chr14:64320057-64320069 chr14:64319645-64319657 chr14:64320177-64320189 chr14:64319644-64319653
27	MXI1	chr14:64319006-64320504	IMR90	lung:	n/a	n/a
28	TAF1	chr14:64319351-64320042	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:64319441-64319951	A549	lung:	n/a	n/a
30	CTCF	chr14:64319520-64319670	GM12874	blood:	n/a	n/a
31	KAP1	chr14:64319323-64319635	HEK293	kidney:	n/a	n/a
32	POLR2A	chr14:64319471-64320272	GM10847	blood:	n/a	n/a
33	CTCF	chr14:64319480-64319630	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr14:64319262-64319818	IMR90	lung:	n/a	n/a
35	POLR2A	chr14:64319456-64321010	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr14:64319527-64319732	MCF-7	breast:	n/a	n/a
37	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
38	CTCF	chr14:64319480-64319630	HMEC	breast:	n/a	n/a
39	TCF12	chr14:64319502-64320305	ECC-1	luminal epithelium:	n/a	n/a
40	RFX5	chr14:64319508-64319757	H1-hESC	embryonic stem cell:	n/a	n/a
41	RFX5	chr14:64319523-64319868	Hela-S3	cervix:	n/a	n/a
42	TAF1	chr14:64319416-64320411	ECC-1	luminal epithelium:	n/a	n/a
43	SP1	chr14:64319462-64319859	GM12878	blood:	n/a	chr14:64319675-64319684 chr14:64319674-64319684
44	POLR2A	chr14:64319363-64320828	Hela-S3	cervix:	n/a	n/a
45	TCF12	chr14:64319186-64319713	A549	lung:	n/a	n/a
46	TAF1	chr14:64319400-64319912	GM12878	blood:	n/a	n/a
47	JUND	chr14:64319490-64319683	H1-hESC	embryonic stem cell:	n/a	chr14:64319650-64319659 chr14:64319657-64319666
48	POLR2A	chr14:64319293-64319937	HEK293	kidney:	n/a	n/a
49	CTCF	chr14:64319500-64319650	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr14:64319374-64320311	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64319297..64320096-chr2:74425675..74426285,2	Hela-S3	cervix:
2	chr14:64319483..64322302-chr14:64328481..64332813,5	MCF-7	breast:
3	chr14:64318775..64319715-chr6:26156466..26157229,2	Hela-S3	cervix:
4	chr14:64319297..64319918-chr6:86352603..86353316,2	Hela-S3	cervix:
5	chr14:64319166..64320923-chr14:64328806..64331982,4	MCF-7	breast:

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000202182	TF binding region
ENSG00000168298	Chromatin interaction
ENSG00000054654	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000135316	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	chr14:64318800-64319600	Active TSS	Fetal Lung	lung
2	chr14:64318800-64321000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:64318800-64321200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:64318800-64321400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:64318800-64321800	Active TSS	Fetal Kidney	kidney
6	chr14:64318800-64322600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:64319000-64319600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:64319000-64319600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr14:64319000-64319600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:64319000-64319600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:64319000-64319600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr14:64319000-64319600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr14:64319000-64319600	Enhancers	Fetal Brain Male	brain
14	chr14:64319000-64319600	Flanking Active TSS	Dnd41	blood
15	chr14:64319000-64319600	Flanking Active TSS	NHEK	skin
16	chr14:64319000-64320800	Active TSS	Brain Hippocampus Middle	brain
17	chr14:64319000-64320800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:64319000-64320800	Active TSS	Colonic Mucosa	Colon
19	chr14:64319000-64321000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:64319000-64321000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:64319000-64321000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:64319000-64321000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:64319000-64321000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:64319000-64321000	Active TSS	Brain Anterior Caudate	brain
25	chr14:64319000-64321000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:64319000-64321000	Active TSS	Colon Smooth Muscle	Colon
27	chr14:64319000-64321000	Active TSS	Duodenum Mucosa	Duodenum
28	chr14:64319000-64321000	Active TSS	Fetal Intestine Small	intestine
29	chr14:64319000-64321000	Active TSS	Fetal Muscle Trunk	muscle
30	chr14:64319000-64321200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:64319000-64321200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:64319000-64321200	Active TSS	Brain Angular Gyrus	brain
33	chr14:64319000-64321200	Active TSS	Fetal Intestine Large	intestine
34	chr14:64319000-64321200	Active TSS	Pancreas	Pancrea
35	chr14:64319000-64321200	Active TSS	A549	lung
36	chr14:64319000-64321400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr14:64319000-64321400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:64319000-64321400	Active TSS	Right Ventricle	heart
39	chr14:64319000-64321800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:64319000-64321800	Active TSS	Brain Germinal Matrix	brain
41	chr14:64319000-64322200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:64319000-64322200	Active TSS	Fetal Brain Female	brain
43	chr14:64319200-64319600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:64319200-64319600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr14:64319200-64319600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr14:64319200-64319600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr14:64319200-64319600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr14:64319200-64319600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr14:64319200-64319600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:64319200-64319600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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