Variant report

Variant	rs7142951
Chromosome Location	chr14:65704144-65704145
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	chr14:65703678-65704463	IMR90	lung:	n/a	chr14:65703843-65703854
2	POLR2A	chr14:65703902-65704196	U87	brain:	n/a	n/a
3	STAT3	chr14:65704139-65704245	MCF10A-Er-Src	breast:	n/a	n/a
4	GTF2F1	chr14:65703389-65704311	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:65703880-65704196	U87	brain:	n/a	n/a
6	GATA3	chr14:65703413-65704362	SK-N-SH	brain:	n/a	n/a
7	EP300	chr14:65703697-65704197	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr14:65703314-65704420	Hela-S3	cervix:	n/a	chr14:65703843-65703854
9	RAD21	chr14:65703380-65704192	Hela-S3	cervix:	n/a	chr14:65703771-65703783 chr14:65703769-65703788
10	RCOR1	chr14:65703946-65704291	Hela-S3	cervix:	n/a	n/a

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	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
6	chr14:65703346..65706250-chr14:65727582..65729755,2	MCF-7	breast:
7	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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1256481	0.93[EUR][1000 genomes]
rs1256485	0.91[EUR][1000 genomes]
rs1256487	0.86[EUR][1000 genomes]
rs1256489	0.91[EUR][1000 genomes]
rs1256490	0.91[EUR][1000 genomes]
rs1256491	0.91[EUR][1000 genomes]
rs1256492	0.91[EUR][1000 genomes]
rs1256493	0.91[EUR][1000 genomes]
rs1256495	0.91[EUR][1000 genomes]
rs1256496	0.91[EUR][1000 genomes]
rs1256497	0.91[EUR][1000 genomes]
rs1256498	0.93[EUR][1000 genomes]
rs1262271	0.91[EUR][1000 genomes]
rs1760969	0.85[EUR][1000 genomes]
rs2086465	0.95[EUR][1000 genomes]
rs2411916	0.85[YRI][hapmap]
rs57454873	0.97[EUR][1000 genomes]
rs59978001	0.96[EUR][1000 genomes]
rs61170796	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61989807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142218	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7146907	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs8004669	0.92[YRI][hapmap]
rs8015540	0.95[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:65 , 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	chr14:65698800-65704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65698800-65704200	Weak transcription	Small Intestine	intestine
12	chr14:65698800-65704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:65698800-65704600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:65698800-65704800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:65698800-65706000	Weak transcription	Brain Angular Gyrus	brain
17	chr14:65698800-65706200	Weak transcription	Pancreas	Pancrea
18	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:65699200-65704600	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:65701200-65707000	Enhancers	Placenta	Placenta
21	chr14:65701600-65704600	Weak transcription	Left Ventricle	heart
22	chr14:65701800-65704200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr14:65703000-65704600	Enhancers	HepG2	liver
24	chr14:65703000-65706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:65703000-65706800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:65703000-65707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:65703000-65707000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:65703000-65707000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:65703200-65704600	Enhancers	A549	lung
30	chr14:65703200-65704800	Enhancers	NH-A	brain
31	chr14:65703200-65705000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:65703200-65705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:65703200-65706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:65703200-65706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:65703200-65706600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:65703200-65706600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:65703200-65706600	Enhancers	HMEC	breast
38	chr14:65703200-65706800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:65703200-65706800	Enhancers	NHLF	lung
40	chr14:65703200-65706800	Enhancers	Osteobl	bone
41	chr14:65703200-65707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:65703200-65707000	Enhancers	NHDF-Ad	bronchial
43	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
44	chr14:65703400-65704600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:65703400-65706000	Enhancers	Stomach Mucosa	stomach
46	chr14:65703400-65706000	Enhancers	NHEK	skin
47	chr14:65703400-65706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:65703400-65706800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:65703400-65707000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine

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