Variant report

Variant	rs7152531
Chromosome Location	chr14:65693795-65693796
allele	C/T
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	CEBPB	chr14:65693417-65694083	ECC-1	luminal epithelium:	n/a	chr14:65693635-65693648
2	SIN3AK20	chr14:65693181-65694579	MCF-7	breast:	n/a	n/a
3	JUND	chr14:65693733-65694139	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:65693677-65694030	ECC-1	luminal epithelium:	n/a	chr14:65693824-65693839
5	FOSL2	chr14:65693535-65694149	HepG2	liver:	n/a	n/a
6	MAX	chr14:65693125-65694492	MCF-7	breast:	n/a	n/a
7	PML	chr14:65693521-65694344	MCF-7	breast:	n/a	n/a
8	GATA3	chr14:65693544-65694371	MCF-7	breast:	n/a	chr14:65693617-65693628
9	HNF4A	chr14:65693676-65694050	HepG2	liver:	n/a	n/a
10	ESR1	chr14:65693472-65694122	T-47D	breast:	n/a	n/a
11	ZEB1	chr14:65693494-65694535	HepG2	liver:	n/a	chr14:65694072-65694083
12	NFIC	chr14:65693477-65694309	ECC-1	luminal epithelium:	n/a	n/a
13	SIN3AK20	chr14:65693172-65694543	MCF-7	breast:	n/a	n/a
14	NR2F2	chr14:65693362-65694470	MCF-7	breast:	n/a	n/a
15	GATA3	chr14:65693378-65694529	T-47D	breast:	n/a	chr14:65693617-65693628
16	GATA3	chr14:65693297-65694631	MCF-7	breast:	n/a	chr14:65693617-65693628
17	MYC	chr14:65693663-65693829	HepG2	liver:	n/a	n/a
18	NR2F2	chr14:65693292-65694491	MCF-7	breast:	n/a	n/a
19	FOXA1	chr14:65693347-65694447	T-47D	breast:	n/a	chr14:65693824-65693839
20	MXI1	chr14:65693516-65694373	HepG2	liver:	n/a	n/a
21	EP300	chr14:65693483-65694431	T-47D	breast:	n/a	chr14:65693933-65693942
22	EP300	chr14:65693432-65694222	A549	lung:	n/a	chr14:65693933-65693942
23	JUND	chr14:65693384-65694509	T-47D	breast:	n/a	n/a
24	FOXM1	chr14:65693490-65694281	ECC-1	luminal epithelium:	n/a	n/a
25	TCF12	chr14:65693766-65694330	ECC-1	luminal epithelium:	n/a	chr14:65694074-65694081
26	CEBPB	chr14:65693417-65693929	A549	lung:	n/a	chr14:65693635-65693648
27	ARID3A	chr14:65693405-65694433	HepG2	liver:	n/a	n/a
28	FOS	chr14:65693575-65693820	MCF10A-Er-Src	breast:	n/a	n/a
29	CEBPB	chr14:65693346-65694177	ECC-1	luminal epithelium:	n/a	chr14:65693635-65693648
30	RAD21	chr14:65693412-65694224	HepG2	liver:	n/a	n/a
31	JUND	chr14:65693524-65694175	HepG2	liver:	n/a	n/a
32	FOS	chr14:65693546-65693795	MCF10A-Er-Src	breast:	n/a	n/a
33	CEBPB	chr14:65693214-65694467	MCF-7	breast:	n/a	chr14:65693635-65693648
34	TBP	chr14:65693526-65694305	HepG2	liver:	n/a	n/a
35	ESR1	chr14:65693466-65694367	T-47D	breast:	n/a	n/a
36	TCF12	chr14:65693331-65694601	MCF-7	breast:	n/a	chr14:65694074-65694081
37	FOXA2	chr14:65693519-65694537	A549	lung:	n/a	n/a
38	FOSL2	chr14:65693514-65694121	A549	lung:	n/a	n/a
39	SP1	chr14:65693433-65694136	A549	lung:	n/a	n/a
40	GATA3	chr14:65693530-65694213	MCF-7	breast:	n/a	chr14:65693617-65693628
41	RXRA	chr14:65693544-65694116	HepG2	liver:	n/a	n/a
42	ZNF217	chr14:65693291-65694395	MCF-7	breast:	n/a	n/a
43	CEBPB	chr14:65693296-65694169	A549	lung:	n/a	chr14:65693635-65693648
44	FOXA1	chr14:65693542-65694498	T-47D	breast:	n/a	chr14:65693824-65693839
45	HDAC2	chr14:65693488-65694238	HepG2	liver:	n/a	chr14:65693826-65693835
46	REST	chr14:65693577-65694091	HepG2	liver:	n/a	n/a
47	CEBPB	chr14:65693481-65694196	HepG2	liver:	n/a	chr14:65693635-65693648
48	GATA3	chr14:65693439-65694533	T-47D	breast:	n/a	chr14:65693617-65693628
49	NFIC	chr14:65693497-65694420	HepG2	liver:	n/a	n/a
50	RAD21	chr14:65693366-65694318	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65631189..65632726-chr14:65692735..65694396,2	MCF-7	breast:
2	chr14:65685682..65688470-chr14:65691307..65693933,2	MCF-7	breast:
3	chr14:65657472..65658987-chr14:65692347..65693955,2	MCF-7	breast:
4	chr14:65692463..65695041-chr14:65818683..65822827,3	MCF-7	breast:
5	chr14:65692548..65695388-chr14:65738784..65741190,2	MCF-7	breast:
6	chr14:65583557..65585174-chr14:65692284..65694348,2	MCF-7	breast:
7	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
8	chr14:65692867..65695461-chr14:65904405..65906189,2	MCF-7	breast:
9	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
10	chr14:65693679..65698667-chr14:65701405..65705460,7	MCF-7	breast:
11	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
12	chr14:65681059..65683272-chr14:65691597..65694149,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255002	TF binding region
ENSG00000033170	Chromatin interaction
ENSG00000258878	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1256530	1.00[MEX][hapmap]
rs55633216	0.85[AMR][1000 genomes]
rs74059013	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65688200-65696400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65689200-65695000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:65689400-65696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:65690000-65696600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:65691000-65696400	Enhancers	Primary B cells from cord blood	blood
6	chr14:65691000-65696400	Enhancers	Brain Substantia Nigra	brain
7	chr14:65691200-65695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:65691200-65696400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65691200-65696600	Enhancers	Placenta	Placenta
10	chr14:65691200-65696600	Enhancers	Stomach Mucosa	stomach
11	chr14:65691400-65694000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:65691400-65694200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:65691400-65694200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:65691400-65694200	Enhancers	Brain Anterior Caudate	brain
15	chr14:65691400-65694200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr14:65691400-65694400	Enhancers	Brain Angular Gyrus	brain
17	chr14:65691400-65694400	Enhancers	Duodenum Mucosa	Duodenum
18	chr14:65691400-65694400	Enhancers	NHDF-Ad	bronchial
19	chr14:65691400-65696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:65691400-65696400	Enhancers	Fetal Intestine Small	intestine
21	chr14:65691400-65696400	Enhancers	Pancreas	Pancrea
22	chr14:65691400-65697600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:65691600-65693800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr14:65691600-65694200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:65691600-65694200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr14:65691600-65694400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:65691600-65696200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:65691800-65693800	Weak transcription	NHEK	skin
29	chr14:65691800-65694200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:65691800-65695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:65691800-65696200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:65691800-65696200	Weak transcription	Thymus	Thymus
33	chr14:65691800-65698600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:65692000-65694600	Enhancers	A549	lung
35	chr14:65692000-65696000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:65692000-65696200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:65692200-65694000	Weak transcription	Esophagus	oesophagus
38	chr14:65692200-65694400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:65692200-65694400	Enhancers	Brain Hippocampus Middle	brain
40	chr14:65692200-65695400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:65692200-65695800	Weak transcription	Fetal Brain Female	brain
42	chr14:65692200-65696200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:65692200-65696200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:65692200-65696200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:65692200-65696200	Weak transcription	Fetal Brain Male	brain
46	chr14:65692200-65696200	Weak transcription	Fetal Stomach	stomach
47	chr14:65692200-65696400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:65692200-65696600	Weak transcription	Spleen	Spleen
49	chr14:65692400-65695000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:65692400-65696000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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