Variant report

Variant	rs57608795
Chromosome Location	chr14:64527676-64527677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:64527369-64527896	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:64527347-64527816	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:64527419-64527703	A549	lung:	n/a	n/a
4	RAD21	chr14:64527421-64527681	HepG2	liver:	n/a	n/a
5	YY1	chr14:64527264-64528032	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr14:64527266-64527839	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr14:64527431-64527797	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:64527494-64527787	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr14:64527418-64527710	HepG2	liver:	n/a	n/a
10	USF1	chr14:64527256-64527773	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:64527461-64527722	MCF-7	breast:	n/a	n/a
12	MXI1	chr14:64527498-64527861	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F4	chr14:64527340-64527716	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr14:64527358-64527699	HepG2	liver:	n/a	n/a
15	MYC	chr14:64527382-64527905	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr14:64526949-64527740	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr14:64527569-64527768	MCF-7	breast:	n/a	n/a
18	RAD21	chr14:64527331-64527802	HCT-116	colon:	n/a	n/a
19	MAX	chr14:64527447-64527906	ECC-1	luminal epithelium:	n/a	n/a
20	TAF1	chr14:64527485-64527833	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr14:64526925-64527911	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:64526786-64527905	MCF10A-Er-Src	breast:	n/a	n/a
23	RAD21	chr14:64527350-64527806	H1-hESC	embryonic stem cell:	n/a	n/a
24	GTF2F1	chr14:64527474-64528040	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr14:64527362-64527728	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOS	chr14:64526930-64527700	MCF10A-Er-Src	breast:	n/a	n/a
27	SP4	chr14:64527339-64527891	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr14:64527484-64527799	MCF-7	breast:	n/a	n/a
29	USF1	chr14:64527227-64527907	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr14:64527424-64527852	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:64527361-64527859	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:64526135-64527725	MCF10A-Er-Src	breast:	n/a	n/a
33	CTCF	chr14:64527327-64527785	A549	lung:	n/a	n/a
34	NANOG	chr14:64527346-64527776	H1-hESC	embryonic stem cell:	n/a	n/a
35	E2F6	chr14:64527334-64528012	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr14:64527340-64528035	H1-hESC	embryonic stem cell:	n/a	n/a
37	TEAD4	chr14:64527424-64527847	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:64527429-64527723	MCF-7	breast:	n/a	n/a
39	TEAD4	chr14:64527336-64527906	ECC-1	luminal epithelium:	n/a	n/a
40	HDAC2	chr14:64527468-64527905	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr14:64527403-64527719	MCF-7	breast:	n/a	n/a
42	ATF2	chr14:64527407-64527852	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:64527415-64527685	GM12878	blood:	n/a	n/a
44	MAX	chr14:64527368-64527944	H1-hESC	embryonic stem cell:	n/a	n/a
45	TEAD4	chr14:64527326-64528001	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr14:64526920-64527962	MCF10A-Er-Src	breast:	n/a	n/a
47	CTCF	chr14:64527367-64527733	GM12878	blood:	n/a	n/a
48	CTCF	chr14:64527381-64527676	K562	blood:	n/a	n/a
49	TCF12	chr14:64527527-64527851	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF217	chr14:64527515-64527769	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64527660-64527710	HepG2	liver:	n/a
2	chr14:64527660-64527710	HAEpiC	amniotic membrane:	n/a
3	chr14:64527660-64527710	SK-N-SH	brain:	n/a
4	chr14:64527660-64527710	GM12892	blood:	n/a
5	chr14:64527660-64527710	ECC-1	luminal epithelium:	n/a
6	chr14:64527660-64527710	Hela-S3	cervix:	n/a
7	chr14:64527660-64527710	GM12891	blood:	n/a
8	chr14:64527660-64527710	LNCaP	prostate:	n/a
9	chr14:64527660-64527710	GM19239	blood:	n/a
10	chr14:64527660-64527710	Hepatocyte	liver:	n/a
11	chr14:64527660-64527710	A549	lung:	n/a
12	chr14:64527660-64527710	T-47D	breast:	n/a
13	chr14:64527660-64527710	HRPEpiC	eye:	n/a
14	chr14:64527660-64527710	NT2-D1	testis:	n/a
15	chr14:64527660-64527710	SAEC	small airway:	n/a
16	chr14:64527660-64527710	AoSMC	blood vessel:	n/a
17	chr14:64527660-64527710	PFSK-1	brain:	n/a
18	chr14:64527660-64527710	MCF-7	breast:	n/a
19	chr14:64527660-64527710	ProgFib	skin:	n/a
20	chr14:64527660-64527710	BJ	skin:	n/a
21	chr14:64527660-64527710	GM12878	blood:	n/a
22	chr14:64527660-64527710	HUVEC	blood vessel:	n/a
23	chr14:64527660-64527710	Caco-2	colon:	n/a
24	chr14:64527660-64527710	IMR90	lung:	fetal
25	chr14:64527660-64527710	PANC-1	pancreas:	n/a
26	chr14:64527660-64527710	NB4	blood:	n/a
27	chr14:64527660-64527710	HRE	kidney:	n/a
28	chr14:64527660-64527710	H1-hESC	embryonic stem cell:	embryo
29	chr14:64527660-64527710	HIPEpiC	eye:	n/a
30	chr14:64527660-64527710	HCM	heart:	n/a
31	chr14:64527660-64527710	HPAEpiC	pulmonary alveolar:	n/a
32	chr14:64527660-64527710	HEEpiC	esophagus:	n/a
33	chr14:64527660-64527710	MCF10A-Er-Src	breast:	n/a
34	chr14:64527660-64527710	HCPEpiC	choroid plexus:	n/a
35	chr14:64527660-64527710	AG09309	skin:	n/a
36	chr14:64527660-64527710	HL-60	blood:	n/a
37	chr14:64527660-64527710	AG04449	skin:	fetal
38	chr14:64527660-64527710	U87	brain:	n/a
39	chr14:64527660-64527710	HRCEpiC	kidney:	n/a
40	chr14:64527660-64527710	HMEC	breast:	n/a
41	chr14:64527660-64527710	ovcar-3	ovarian:	n/a
42	chr14:64527660-64527710	AG09319	gingival:	n/a
43	chr14:64527660-64527710	SKMC	muscle:	n/a
44	chr14:64527660-64527710	BE2_C	brain:	n/a
45	chr14:64527660-64527710	RPTEC	kidney:	n/a
46	chr14:64527660-64527710	AG10803	skin:	n/a
47	chr14:64527660-64527710	HCT-116	colon:	n/a
48	chr14:64527660-64527710	NH-A	brain:	n/a
49	chr14:64527660-64527710	K562	blood:	n/a
50	chr14:64527660-64527710	GM06990	blood:	n/a

(count:3 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
SYNE2	TF binding region
SYNE2	CpG island
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];0.95[EUR][1000 genomes]
rs10137916	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10138308	0.81[EUR][1000 genomes]
rs11158527	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158528	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11847087	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1556587	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17101577	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17101600	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17101624	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17101626	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59807631	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718389	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718390	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718393	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718394	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718399	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718402	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8017952	0.93[AMR][1000 genomes];0.95[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:98 , 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	chr14:64516600-64541400	Weak transcription	HSMM	muscle
8	chr14:64519000-64528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:64519000-64541000	Weak transcription	HUVEC	blood vessel
10	chr14:64519200-64533200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:64519400-64529600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
13	chr14:64519600-64529600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
15	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:64519800-64532000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:64519800-64534600	Weak transcription	Fetal Lung	lung
18	chr14:64520400-64537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:64520400-64539000	Weak transcription	Liver	Liver
20	chr14:64520600-64530000	Weak transcription	GM12878-XiMat	blood
21	chr14:64521000-64529800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
23	chr14:64522600-64528000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:64523000-64532200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:64523200-64529600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:64524200-64532000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:64525400-64535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:64526000-64527800	Strong transcription	Dnd41	blood
30	chr14:64526000-64529800	Enhancers	HMEC	breast
31	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:64526200-64527800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:64526200-64527800	Strong transcription	Fetal Intestine Small	intestine
34	chr14:64526200-64527800	Strong transcription	Fetal Stomach	stomach
35	chr14:64526200-64527800	Enhancers	Pancreas	Pancrea
36	chr14:64526600-64527800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr14:64526600-64528000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr14:64526600-64529600	Weak transcription	Lung	lung
39	chr14:64526600-64529800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:64526600-64536000	Weak transcription	Fetal Brain Female	brain
41	chr14:64526800-64527800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:64526800-64527800	Enhancers	Hela-S3	cervix
43	chr14:64526800-64529800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:64526800-64534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:64526800-64539000	Weak transcription	Fetal Thymus	thymus
46	chr14:64526800-64540400	Weak transcription	Fetal Kidney	kidney
47	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:64527000-64527800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:64527000-64527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:64527000-64527800	Enhancers	Gastric	stomach

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