Variant report

Variant	rs539351154
Chromosome Location	chr14:70040411-70040412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	REST	chr14:70040120-70042029	H1-neurons	neurons:	n/a	chr14:70041308-70041317 chr14:70040123-70040141 chr14:70040122-70040142 chr14:70040518-70040531 chr14:70040126-70040139 chr14:70040129-70040142 chr14:70040122-70040142
3	TEAD4	chr14:70040352-70040891	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr14:70040363-70040890	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:70040391-70041771	H1-neurons	neurons:	n/a	n/a
6	ZNF263	chr14:70040244-70040961	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70040391-70040441	AG04450	lung:	fetal
2	chr14:70040391-70040441	ovcar-3	ovarian:	n/a
3	chr14:70040391-70040441	AG09309	skin:	n/a
4	chr14:70040391-70040441	RPTEC	kidney:	n/a
5	chr14:70040391-70040441	SK-N-SH	brain:	n/a
6	chr14:70040391-70040441	ECC-1	luminal epithelium:	n/a
7	chr14:70040391-70040441	HMEC	breast:	n/a
8	chr14:70040391-70040441	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:70040391-70040441	AG09319	gingival:	n/a
10	chr14:70040391-70040441	LNCaP	prostate:	n/a
11	chr14:70040391-70040441	MCF-7	breast:	n/a
12	chr14:70040391-70040441	GM06990	blood:	n/a
13	chr14:70040391-70040441	HepG2	liver:	n/a
14	chr14:70040391-70040441	Caco-2	colon:	n/a
15	chr14:70040391-70040441	NHBE	bronchial:	n/a
16	chr14:70040391-70040441	HEK293	kidney:	embryo
17	chr14:70040391-70040441	HCT-116	colon:	n/a
18	chr14:70040391-70040441	HEEpiC	esophagus:	n/a
19	chr14:70040391-70040441	Hepatocyte	liver:	n/a
20	chr14:70040391-70040441	NH-A	brain:	n/a
21	chr14:70040391-70040441	NT2-D1	testis:	n/a
22	chr14:70040391-70040441	SK-N-MC	brain:	n/a
23	chr14:70040391-70040441	GM12878	blood:	n/a
24	chr14:70040391-70040441	GM19239	blood:	n/a
25	chr14:70040391-70040441	AG04449	skin:	fetal
26	chr14:70040391-70040441	T-47D	breast:	n/a
27	chr14:70040391-70040441	SK-N-SH_RA	brain:	n/a
28	chr14:70040391-70040441	Jurkat	blood:	n/a
29	chr14:70040391-70040441	NHDF-neo	bronchial:	n/a
30	chr14:70040391-70040441	PrEC	prostate:	n/a
31	chr14:70040391-70040441	A549	lung:	n/a
32	chr14:70040391-70040441	BE2_C	brain:	n/a
33	chr14:70040391-70040441	ProgFib	skin:	n/a
34	chr14:70040391-70040441	IMR90	lung:	fetal
35	chr14:70040391-70040441	CMK	blood:	n/a
36	chr14:70040391-70040441	Hela-S3	cervix:	n/a
37	chr14:70040391-70040441	HUVEC	blood vessel:	n/a
38	chr14:70040391-70040441	PANC-1	pancreas:	n/a
39	chr14:70040391-70040441	HRE	kidney:	n/a
40	chr14:70040391-70040441	SAEC	small airway:	n/a
41	chr14:70040391-70040441	PFSK-1	brain:	n/a
42	chr14:70040391-70040441	U87	brain:	n/a
43	chr14:70040391-70040441	HNPCEpiC	eye:	n/a
44	chr14:70040391-70040441	MCF10A-Er-Src	breast:	n/a
45	chr14:70040391-70040441	HCM	heart:	n/a
46	chr14:70040391-70040441	NB4	blood:	n/a
47	chr14:70040391-70040441	HRCEpiC	kidney:	n/a
48	chr14:70040391-70040441	AG10803	skin:	n/a
49	chr14:70040391-70040441	H1-hESC	embryonic stem cell:	embryo
50	chr14:70040391-70040441	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
2	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
3	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC177	TF binding region
ENSG00000267909	TF binding region
ENSG00000267909	CpG island
CCDC177	CpG island
ENSG00000100650	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000255994	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv565003	chr14:70035500-70041193	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
2	nsv565004	chr14:70035500-70041363	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1824330	chr14:70037611-70042464	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv20393	chr14:70038588-70041438	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3339004	chr14:70038624-70041372	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	nsv565005	chr14:70039587-70040957	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv1835569	chr14:70039587-70041363	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	nsv565006	chr14:70039689-70040808	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70038200-70040600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
2	chr14:70038200-70040600	Bivalent Enhancer	Stomach Mucosa	stomach
3	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
4	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
5	chr14:70038400-70040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:70039000-70041400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr14:70039200-70040800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:70039200-70041000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr14:70039200-70041200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr14:70039400-70040600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr14:70039400-70041000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr14:70039400-70041000	Bivalent Enhancer	Esophagus	oesophagus
13	chr14:70039400-70041200	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr14:70039400-70041200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr14:70039400-70041600	Enhancers	Gastric	stomach
16	chr14:70039400-70041600	Bivalent Enhancer	HUVEC	blood vessel
17	chr14:70039400-70045000	Weak transcription	Hela-S3	cervix
18	chr14:70039600-70041000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:70039600-70041000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr14:70039600-70041000	Bivalent Enhancer	Colonic Mucosa	Colon
21	chr14:70039600-70041600	Enhancers	Pancreas	Pancrea
22	chr14:70039800-70041000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:70040000-70040600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr14:70040000-70040600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr14:70040000-70040600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:70040000-70040600	Flanking Active TSS	Fetal Brain Female	brain
27	chr14:70040000-70040800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr14:70040000-70041000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:70040000-70041000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr14:70040000-70041200	Active TSS	Right Atrium	heart
31	chr14:70040000-70041800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70040200-70040600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:70040200-70040600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
34	chr14:70040200-70040600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:70040200-70040600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr14:70040200-70040600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
37	chr14:70040200-70040600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr14:70040200-70040600	Bivalent Enhancer	Spleen	Spleen
39	chr14:70040200-70040600	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr14:70040200-70040800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:70040200-70040800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:70040200-70040800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:70040200-70040800	Bivalent Enhancer	Left Ventricle	heart
44	chr14:70040200-70040800	Flanking Bivalent TSS/Enh	Ovary	ovary
45	chr14:70040200-70041000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr14:70040200-70041200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:70040200-70041200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:70040200-70041200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:70040200-70041200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr14:70040200-70041600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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