Variant report

Variant	rs112052589
Chromosome Location	chr14:65016876-65016877
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	MAX	chr14:65016507-65016901	A549	lung:	n/a	n/a
2	MAX	chr14:65016460-65016902	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:65016456-65016883	H1-hESC	embryonic stem cell:	n/a	n/a
4	TFAP2A	chr14:65016306-65016943	Hela-S3	cervix:	n/a	chr14:65016643-65016651 chr14:65016896-65016904 chr14:65016643-65016651 chr14:65016643-65016651 chr14:65016896-65016904 chr14:65016896-65016904
5	MAX	chr14:65016468-65017093	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:65016687-65016909	MCF-7	breast:	n/a	n/a
7	MAX	chr14:65016382-65016914	A549	lung:	n/a	n/a
8	POLR2A	chr14:65016576-65016876	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr14:65016602-65016887	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:65016751-65016885	MCF-7	breast:	n/a	n/a
11	TFAP2C	chr14:65016191-65016972	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:65016253-65016917	Hela-S3	cervix:	n/a	n/a
13	HA-E2F1	chr14:65016336-65016984	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:65016738-65016905	MCF-7	breast:	n/a	n/a
15	E2F6	chr14:65016431-65016947	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr14:65016482-65017304	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:65016400-65017057	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
2	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:
3	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
4	chr14:64971147..64972847-chr14:65015662..65018406,2	MCF-7	breast:
5	chr14:65015799..65018122-chr20:55818007..55820214,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R36	TF binding region
ENSG00000259116	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000126803	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564907	chr14:65011509-65018663	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv12236	chr14:65014784-65020415	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv442343	chr14:65015653-65019529	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv564908	chr14:65015655-65017474	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv564909	chr14:65015655-65020267	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65015800-65017200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65016000-65017000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:65016000-65017200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr14:65016000-65017200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr14:65016000-65017200	Bivalent Enhancer	Fetal Lung	lung
6	chr14:65016200-65017000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:65016200-65017000	Enhancers	HMEC	breast
8	chr14:65016200-65017200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
9	chr14:65016200-65017200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr14:65016200-65017200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:65016200-65017200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr14:65016200-65017200	Flanking Active TSS	Hela-S3	cervix
13	chr14:65016200-65017400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:65016200-65017400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:65016200-65017400	Bivalent Enhancer	Liver	Liver
16	chr14:65016200-65017400	Bivalent Enhancer	Fetal Thymus	thymus
17	chr14:65016200-65017400	Enhancers	Spleen	Spleen
18	chr14:65016200-65017400	Flanking Active TSS	NHEK	skin
19	chr14:65016200-65017600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:65016400-65017000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:65016400-65017000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:65016400-65017000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr14:65016400-65017000	Active TSS	Ovary	ovary
26	chr14:65016400-65017000	Flanking Active TSS	Psoas Muscle	Psoas
27	chr14:65016400-65017000	Active TSS	Right Atrium	heart
28	chr14:65016400-65017000	Flanking Active TSS	HUVEC	blood vessel
29	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr14:65016400-65017000	Flanking Bivalent TSS/Enh	NH-A	brain
31	chr14:65016400-65017000	Active TSS	NHDF-Ad	bronchial
32	chr14:65016400-65017000	Active TSS	NHLF	lung
33	chr14:65016400-65017000	Bivalent/Poised TSS	Osteobl	bone
34	chr14:65016400-65017200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:65016400-65017200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:65016400-65017200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:65016400-65017200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:65016400-65017200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr14:65016400-65017200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:65016400-65017200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:65016400-65017200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:65016400-65017200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr14:65016400-65017200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:65016400-65017200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:65016400-65017200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:65016400-65017200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr14:65016400-65017200	Active TSS	Duodenum Mucosa	Duodenum
48	chr14:65016400-65017200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr14:65016400-65017400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:65016400-65017400	Flanking Active TSS	Brain Hippocampus Middle	brain

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