Variant report

Variant	rs72718391
Chromosome Location	chr14:64527245-64527246
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	STAT3	chr14:64526949-64527740	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr14:64526925-64527911	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:64526786-64527905	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr14:64527120-64527270	HepG2	liver:	n/a	n/a
5	FOS	chr14:64526930-64527700	MCF10A-Er-Src	breast:	n/a	n/a
6	USF1	chr14:64527227-64527907	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:64526135-64527725	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr14:64526920-64527962	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr14:64527240-64527390	GM12875	blood:	n/a	n/a
10	STAT3	chr14:64526927-64527668	MCF10A-Er-Src	breast:	n/a	n/a
11	CTBP2	chr14:64527134-64527871	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOS	chr14:64526931-64527838	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:64526880-64527783	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr14:64526901-64527778	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr14:64527224-64527765	GM12878	blood:	n/a	n/a
16	CTCF	chr14:64527200-64527350	HRE	kidney:	n/a	n/a
17	STAT3	chr14:64526946-64527808	MCF10A-Er-Src	breast:	n/a	n/a
18	USF1	chr14:64527212-64527480	SK-N-SH_RA	brain:	n/a	n/a
19	FOS	chr14:64526925-64527831	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64527166..64528056-chr14:64769855..64770460,2	MCF-7	breast:
2	chr14:64526121..64529076-chr14:64529441..64531025,2	MCF-7	breast:
3	chr14:64526854..64528151-chr14:64761355..64762258,4	MCF-7	breast:

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10129174	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10138308	0.85[EUR][1000 genomes]
rs11158527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1556587	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101577	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101624	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57608795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59807631	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718389	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718390	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718394	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718399	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017952	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:64512400-64527600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:64515000-64527600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:64516600-64541400	Weak transcription	HSMM	muscle
10	chr14:64518000-64527400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:64519000-64528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:64519000-64541000	Weak transcription	HUVEC	blood vessel
13	chr14:64519200-64533200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:64519400-64529600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
16	chr14:64519600-64529600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
18	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:64519800-64532000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:64519800-64534600	Weak transcription	Fetal Lung	lung
21	chr14:64520400-64537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:64520400-64539000	Weak transcription	Liver	Liver
23	chr14:64520600-64527400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:64520600-64530000	Weak transcription	GM12878-XiMat	blood
25	chr14:64521000-64529800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
27	chr14:64522600-64528000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr14:64523000-64532200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:64523200-64529600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:64524200-64532000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:64525200-64527400	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:64525400-64527400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:64525400-64535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:64525800-64527600	Strong transcription	Brain Germinal Matrix	brain
36	chr14:64526000-64527400	Strong transcription	Primary T cells from cord blood	blood
37	chr14:64526000-64527800	Strong transcription	Dnd41	blood
38	chr14:64526000-64529800	Enhancers	HMEC	breast
39	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:64526200-64527400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:64526200-64527400	Strong transcription	Thymus	Thymus
42	chr14:64526200-64527600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:64526200-64527600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:64526200-64527600	Strong transcription	Fetal Intestine Large	intestine
45	chr14:64526200-64527800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:64526200-64527800	Strong transcription	Fetal Intestine Small	intestine
47	chr14:64526200-64527800	Strong transcription	Fetal Stomach	stomach
48	chr14:64526200-64527800	Enhancers	Pancreas	Pancrea
49	chr14:64526400-64527600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:64526600-64527800	Enhancers	Placenta Amnion	Placenta Amnion

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