Variant report

Variant	rs565193487
Chromosome Location	chr14:69950371-69950372
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	ESR1	chr14:69950262-69950928	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr14:69950322-69950903	ECC-1	luminal epithelium:	n/a	n/a
4	ZBTB7A	chr14:69950355-69952126	ECC-1	luminal epithelium:	n/a	chr14:69950517-69950526 chr14:69951500-69951509
5	NFIC	chr14:69950115-69951327	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr14:69950314-69951024	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr14:69950247-69951637	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr14:69950148-69951705	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
9	POLR2A	chr14:69950357-69951674	ECC-1	luminal epithelium:	n/a	n/a
10	HDAC2	chr14:69950359-69951785	MCF-7	breast:	n/a	n/a
11	MAX	chr14:69950187-69951692	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr14:69950226-69950924	ECC-1	luminal epithelium:	n/a	n/a
13	TEAD4	chr14:69950247-69951558	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr14:69950177-69951768	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
15	EP300	chr14:69950338-69951140	ECC-1	luminal epithelium:	n/a	chr14:69950814-69950823
16	EP300	chr14:69950137-69951706	ECC-1	luminal epithelium:	n/a	chr14:69951282-69951291 chr14:69950814-69950823 chr14:69951543-69951559
17	FOXM1	chr14:69950246-69951225	ECC-1	luminal epithelium:	n/a	n/a
18	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a
19	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
20	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
21	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823

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	chr14:69947861..69950985-chr14:69958572..69961159,3	MCF-7	breast:
4	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
5	chr14:69947992..69950774-chr14:69962839..69965833,3	K562	blood:
6	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
7	chr14:69947992..69950774-chr14:69962839..69965276,2	K562	blood:

Variant related genes	Relation type
PLEKHD1	TF binding region
ENSG00000267909	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000100632	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69923600-69950400	Weak transcription	Gastric	stomach
2	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
3	chr14:69948600-69950400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr14:69949200-69950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr14:69949400-69950400	Weak transcription	Lung	lung
6	chr14:69949400-69950400	Weak transcription	Psoas Muscle	Psoas
7	chr14:69949800-69952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:69950000-69950400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:69950000-69950600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:69950000-69950600	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr14:69950000-69950600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:69950200-69950400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
13	chr14:69950200-69950400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
14	chr14:69950200-69950400	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr14:69950200-69950400	Enhancers	HSMM	muscle
16	chr14:69950200-69950800	Enhancers	Liver	Liver

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