Variant report

Variant	rs531759328
Chromosome Location	chr14:69950782-69950783
allele	A/G
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	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	TEAD4	chr14:69950721-69951295	H1-hESC	embryonic stem cell:	n/a	n/a
4	ESR1	chr14:69950262-69950928	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr14:69950585-69950815	MCF-7	breast:	n/a	n/a
6	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr14:69950322-69950903	ECC-1	luminal epithelium:	n/a	n/a
8	ZBTB7A	chr14:69950355-69952126	ECC-1	luminal epithelium:	n/a	chr14:69950517-69950526 chr14:69951500-69951509
9	NFIC	chr14:69950115-69951327	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr14:69950372-69951792	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr14:69950314-69951024	ECC-1	luminal epithelium:	n/a	n/a
12	CTBP2	chr14:69950474-69951751	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr14:69950247-69951637	ECC-1	luminal epithelium:	n/a	n/a
14	NR2F2	chr14:69950492-69952129	MCF-7	breast:	n/a	n/a
15	TCF12	chr14:69950148-69951705	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
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	BACH1	chr14:69950648-69951056	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr14:69950226-69950924	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr14:69950476-69951987	MCF-7	breast:	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	E2F6	chr14:69950615-69951619	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
33	FOXM1	chr14:69950246-69951225	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a
35	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
36	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr14:69950411-69951334	ECC-1	luminal epithelium:	n/a	n/a
38	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
39	GABPA	chr14:69950523-69951033	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHD1	TF binding region
ENSG00000100650	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000029364	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69949800-69952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:69950200-69950800	Enhancers	Liver	Liver
3	chr14:69950400-69950800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:69950400-69950800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:69950400-69950800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
6	chr14:69950400-69950800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr14:69950400-69950800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
8	chr14:69950400-69950800	Bivalent Enhancer	Placenta	Placenta
9	chr14:69950400-69950800	Enhancers	Lung	lung
10	chr14:69950400-69950800	Active TSS	Right Atrium	heart
11	chr14:69950400-69950800	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr14:69950400-69950800	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr14:69950400-69950800	Flanking Active TSS	HSMM	muscle
14	chr14:69950400-69951000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
17	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr14:69950400-69951200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr14:69950400-69951200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr14:69950400-69951600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:69950400-69951600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr14:69950400-69951600	Flanking Bivalent TSS/Enh	Ovary	ovary
25	chr14:69950400-69951800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:69950400-69951800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr14:69950400-69951800	Bivalent Enhancer	Fetal Brain Male	brain
30	chr14:69950400-69952000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr14:69950400-69952000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr14:69950400-69952000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:69950400-69952000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr14:69950400-69952000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:69950400-69952000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr14:69950400-69952200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:69950400-69952200	Bivalent Enhancer	Spleen	Spleen
41	chr14:69950600-69950800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr14:69950600-69950800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:69950600-69950800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:69950600-69950800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:69950600-69950800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr14:69950600-69950800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:69950600-69950800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr14:69950600-69950800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:69950600-69950800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr14:69950600-69950800	Enhancers	HSMMtube	muscle

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