Variant report

Variant	rs1760965
Chromosome Location	chr14:65703635-65703636
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	TFAP2C	chr14:65703236-65703899	Hela-S3	cervix:	n/a	chr14:65703435-65703450
2	CEBPB	chr14:65703627-65703944	A549	lung:	n/a	chr14:65703843-65703854
3	TCF7L2	chr14:65703388-65703709	Hela-S3	cervix:	n/a	chr14:65703481-65703490 chr14:65703517-65703531 chr14:65703520-65703529 chr14:65703516-65703532 chr14:65703520-65703530 chr14:65703516-65703532 chr14:65703517-65703531
4	GTF2F1	chr14:65703389-65704311	Hela-S3	cervix:	n/a	n/a
5	NR2F2	chr14:65703083-65704088	MCF-7	breast:	n/a	n/a
6	SP1	chr14:65703285-65703793	A549	lung:	n/a	n/a
7	GATA3	chr14:65703413-65704362	SK-N-SH	brain:	n/a	n/a
8	MAZ	chr14:65703417-65704030	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:65703314-65704420	Hela-S3	cervix:	n/a	chr14:65703843-65703854
10	TCF7L2	chr14:65703241-65703796	MCF-7	breast:	n/a	chr14:65703481-65703490 chr14:65703517-65703531 chr14:65703520-65703529 chr14:65703516-65703532 chr14:65703520-65703530 chr14:65703516-65703532 chr14:65703517-65703531
11	CEBPB	chr14:65703578-65704079	A549	lung:	n/a	chr14:65703843-65703854
12	RAD21	chr14:65703380-65704192	Hela-S3	cervix:	n/a	chr14:65703771-65703783 chr14:65703769-65703788
13	CEBPB	chr14:65703614-65704030	MCF-7	breast:	n/a	chr14:65703843-65703854
14	TCF7L2	chr14:65703221-65703926	Hela-S3	cervix:	n/a	chr14:65703481-65703490 chr14:65703517-65703531 chr14:65703520-65703529 chr14:65703516-65703532 chr14:65703520-65703530 chr14:65703516-65703532 chr14:65703517-65703531

No.	Distal block	Cell Line	Cell type
1	chr14:65703192..65707325-chr14:65876761..65880324,6	MCF-7	breast:
2	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
3	chr14:65703585..65706555-chr14:65877263..65880566,3	MCF-7	breast:
4	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
5	chr14:65703346..65706250-chr14:65727582..65729755,2	MCF-7	breast:
6	chr14:65694009..65696273-chr14:65703311..65706029,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1256478	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1256480	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1621546	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1679883	0.80[EUR][1000 genomes]
rs1760962	0.80[EUR][1000 genomes]
rs1760964	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2086464	0.91[EUR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65693400-65704200	Weak transcription	Gastric	stomach
2	chr14:65697200-65704800	Weak transcription	Lung	lung
3	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:65697400-65704200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:65697400-65704400	Weak transcription	Colonic Mucosa	Colon
6	chr14:65697400-65704600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:65697400-65706000	Weak transcription	Spleen	Spleen
8	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:65697600-65704600	Weak transcription	K562	blood
10	chr14:65698600-65703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:65698800-65704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:65698800-65704200	Weak transcription	Small Intestine	intestine
13	chr14:65698800-65704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:65698800-65704600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:65698800-65706000	Weak transcription	Brain Angular Gyrus	brain
18	chr14:65698800-65706200	Weak transcription	Pancreas	Pancrea
19	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:65699200-65704600	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:65701200-65707000	Enhancers	Placenta	Placenta
22	chr14:65701600-65704600	Weak transcription	Left Ventricle	heart
23	chr14:65701800-65704200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:65703000-65704600	Enhancers	HepG2	liver
25	chr14:65703000-65706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:65703200-65704600	Enhancers	A549	lung
31	chr14:65703200-65704800	Enhancers	NH-A	brain
32	chr14:65703200-65705000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:65703200-65705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:65703200-65706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:65703200-65706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:65703200-65706600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:65703200-65706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:65703200-65706600	Enhancers	HMEC	breast
39	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:65703200-65706800	Enhancers	NHLF	lung
41	chr14:65703200-65706800	Enhancers	Osteobl	bone
42	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
44	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
45	chr14:65703400-65704600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:65703400-65706000	Enhancers	Stomach Mucosa	stomach
47	chr14:65703400-65706000	Enhancers	NHEK	skin
48	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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