Variant report

Variant	rs186582201
Chromosome Location	chr14:69950593-69950594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr14:69950556-69950878	T-47D	breast:	n/a	n/a
2	ZBTB7A	chr14:69950544-69951924	ECC-1	luminal epithelium:	n/a	chr14:69951500-69951509
3	ESR1	chr14:69950262-69950928	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr14:69950585-69950815	MCF-7	breast:	n/a	n/a
5	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr14:69950322-69950903	ECC-1	luminal epithelium:	n/a	n/a
7	ZBTB7A	chr14:69950355-69952126	ECC-1	luminal epithelium:	n/a	chr14:69950517-69950526 chr14:69951500-69951509
8	NFIC	chr14:69950115-69951327	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr14:69950372-69951792	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr14:69950314-69951024	ECC-1	luminal epithelium:	n/a	n/a
11	CTBP2	chr14:69950474-69951751	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr14:69950247-69951637	ECC-1	luminal epithelium:	n/a	n/a
13	NR2F2	chr14:69950492-69952129	MCF-7	breast:	n/a	n/a
14	TCF12	chr14:69950148-69951705	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
15	ZNF143	chr14:69950524-69950633	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:69950357-69951674	ECC-1	luminal epithelium:	n/a	n/a
17	SIN3A	chr14:69950441-69951712	H1-hESC	embryonic stem cell:	n/a	chr14:69951658-69951671 chr14:69951364-69951377 chr14:69950533-69950546
18	POLR2A	chr14:69950576-69950905	H1-neurons	neurons:	n/a	n/a
19	HDAC2	chr14:69950359-69951785	MCF-7	breast:	n/a	n/a
20	MAX	chr14:69950187-69951692	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr14:69950441-69950899	ECC-1	luminal epithelium:	n/a	chr14:69950812-69950821 chr14:69950816-69950827 chr14:69950675-69950689 chr14:69950815-69950824 chr14:69950813-69950824
22	CEBPB	chr14:69950226-69950924	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr14:69950476-69951987	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:69950580-69950730	Caco-2	colon:	n/a	n/a
25	TEAD4	chr14:69950247-69951558	ECC-1	luminal epithelium:	n/a	n/a
26	TCF12	chr14:69950177-69951768	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
27	HDAC2	chr14:69950530-69951309	MCF-7	breast:	n/a	n/a
28	EP300	chr14:69950338-69951140	ECC-1	luminal epithelium:	n/a	chr14:69950814-69950823
29	GABPA	chr14:69950401-69951292	MCF-7	breast:	n/a	chr14:69951187-69951196 chr14:69951282-69951291
30	EP300	chr14:69950137-69951706	ECC-1	luminal epithelium:	n/a	chr14:69951282-69951291 chr14:69950814-69950823 chr14:69951543-69951559
31	ELF1	chr14:69950424-69951973	MCF-7	breast:	n/a	chr14:69951225-69951237 chr14:69951656-69951668 chr14:69950813-69950825 chr14:69950812-69950821 chr14:69950815-69950824
32	FOXM1	chr14:69950246-69951225	ECC-1	luminal epithelium:	n/a	n/a
33	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a
34	YY1	chr14:69950366-69950857	ECC-1	luminal epithelium:	n/a	chr14:69950812-69950821 chr14:69950816-69950827 chr14:69950675-69950689 chr14:69950815-69950824 chr14:69950813-69950824
35	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:69950411-69951334	ECC-1	luminal epithelium:	n/a	n/a
37	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
38	GABPA	chr14:69950523-69951033	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69950574-69950624	SK-N-MC	brain:	n/a
2	chr14:69950574-69950624	NT2-D1	testis:	n/a
3	chr14:69950574-69950624	BJ	skin:	n/a
4	chr14:69950574-69950624	HAEpiC	amniotic membrane:	n/a
5	chr14:69950574-69950624	GM06990	blood:	n/a
6	chr14:69950574-69950624	Jurkat	blood:	n/a
7	chr14:69950574-69950624	Hepatocyte	liver:	n/a
8	chr14:69950574-69950624	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:69950574-69950624	SK-N-SH_RA	brain:	n/a
10	chr14:69950574-69950624	HCF	heart:	n/a
11	chr14:69950574-69950624	MCF10A-Er-Src	breast:	n/a
12	chr14:69950574-69950624	PrEC	prostate:	n/a
13	chr14:69950574-69950624	ECC-1	luminal epithelium:	n/a
14	chr14:69950574-69950624	U87	brain:	n/a
15	chr14:69950574-69950624	HepG2	liver:	n/a
16	chr14:69950574-69950624	AoSMC	blood vessel:	n/a
17	chr14:69950574-69950624	NHBE	bronchial:	n/a
18	chr14:69950574-69950624	H1-hESC	embryonic stem cell:	embryo
19	chr14:69950574-69950624	HIPEpiC	eye:	n/a
20	chr14:69950574-69950624	GM12892	blood:	n/a
21	chr14:69950574-69950624	AG10803	skin:	n/a
22	chr14:69950574-69950624	A549	lung:	n/a
23	chr14:69950574-69950624	HRCEpiC	kidney:	n/a
24	chr14:69950574-69950624	HL-60	blood:	n/a
25	chr14:69950574-69950624	ovcar-3	ovarian:	n/a
26	chr14:69950574-69950624	NB4	blood:	n/a
27	chr14:69950574-69950624	Hela-S3	cervix:	n/a
28	chr14:69950574-69950624	HMEC	breast:	n/a
29	chr14:69950574-69950624	T-47D	breast:	n/a
30	chr14:69950574-69950624	AG09319	gingival:	n/a
31	chr14:69950574-69950624	SKMC	muscle:	n/a
32	chr14:69950574-69950624	HEK293	kidney:	embryo
33	chr14:69950574-69950624	RPTEC	kidney:	n/a
34	chr14:69950574-69950624	SK-N-SH	brain:	n/a
35	chr14:69950574-69950624	HCPEpiC	choroid plexus:	n/a
36	chr14:69950574-69950624	MCF-7	breast:	n/a
37	chr14:69950574-69950624	PFSK-1	brain:	n/a
38	chr14:69950574-69950624	NHDF-neo	bronchial:	n/a
39	chr14:69950574-69950624	GM19239	blood:	n/a
40	chr14:69950574-69950624	GM12891	blood:	n/a
41	chr14:69950574-69950624	AG04450	lung:	fetal
42	chr14:69950574-69950624	SAEC	small airway:	n/a
43	chr14:69950574-69950624	HEEpiC	esophagus:	n/a
44	chr14:69950574-69950624	HRPEpiC	eye:	n/a
45	chr14:69950574-69950624	Caco-2	colon:	n/a
46	chr14:69950574-69950624	IMR90	lung:	fetal
47	chr14:69950574-69950624	GM12878	blood:	n/a
48	chr14:69950574-69950624	LNCaP	prostate:	n/a
49	chr14:69950574-69950624	AG04449	skin:	fetal
50	chr14:69950574-69950624	ProgFib	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69862767..69865090-chr14:69948473..69950881,2	MCF-7	breast:
2	chr14:69946123..69947705-chr14:69948349..69951147,2	MCF-7	breast:
3	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
4	chr14:69947861..69950985-chr14:69958572..69961159,3	MCF-7	breast:
5	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
6	chr14:69947992..69950774-chr14:69962839..69965833,3	K562	blood:
7	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
8	chr14:69947992..69950774-chr14:69962839..69965276,2	K562	blood:

No data

Variant related genes	Relation type
PLEKHD1	TF binding region
PLEKHD1	CpG island
ENSG00000100650	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000267909	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1050258	chr14:69942127-69976694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3357015	chr14:69950224-69952772	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
2	chr14:69949200-69950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr14:69949800-69952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:69950000-69950600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:69950000-69950600	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr14:69950000-69950600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:69950200-69950800	Enhancers	Liver	Liver
8	chr14:69950400-69950600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr14:69950400-69950600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:69950400-69950600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:69950400-69950600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:69950400-69950600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:69950400-69950600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:69950400-69950600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr14:69950400-69950600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:69950400-69950600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:69950400-69950600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:69950400-69950600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:69950400-69950600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:69950400-69950600	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr14:69950400-69950600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr14:69950400-69950600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr14:69950400-69950600	Bivalent Enhancer	Fetal Heart	heart
24	chr14:69950400-69950600	Enhancers	Gastric	stomach
25	chr14:69950400-69950600	Enhancers	Left Ventricle	heart
26	chr14:69950400-69950600	Active TSS	Pancreas	Pancrea
27	chr14:69950400-69950600	Flanking Active TSS	Psoas Muscle	Psoas
28	chr14:69950400-69950600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr14:69950400-69950600	Active TSS	Right Ventricle	heart
30	chr14:69950400-69950600	Bivalent Enhancer	HepG2	liver
31	chr14:69950400-69950800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:69950400-69950800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:69950400-69950800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
34	chr14:69950400-69950800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
35	chr14:69950400-69950800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr14:69950400-69950800	Bivalent Enhancer	Placenta	Placenta
37	chr14:69950400-69950800	Enhancers	Lung	lung
38	chr14:69950400-69950800	Active TSS	Right Atrium	heart
39	chr14:69950400-69950800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr14:69950400-69950800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr14:69950400-69950800	Flanking Active TSS	HSMM	muscle
42	chr14:69950400-69951000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
46	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr14:69950400-69951200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr14:69950400-69951600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links