Variant report

Variant	rs28436279
Chromosome Location	chr14:20772903-20772904
allele	G/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	CUX1	chr14:20772888-20773051	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20772687..20775435-chr14:20922031..20924000,2	MCF-7	breast:
2	chr14:20772439..20773954-chr14:20799516..20802559,3	MCF-7	breast:
3	chr14:20772552..20774812-chr14:20810086..20811786,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258459	TF binding region
ENSG00000100814	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000100823	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17242578	0.94[ASN][1000 genomes]
rs17308324	0.87[ASN][1000 genomes]
rs1953550	0.82[EUR][1000 genomes]
rs2002245	0.80[EUR][1000 genomes]
rs2318863	0.82[EUR][1000 genomes]
rs3784243	0.94[ASN][1000 genomes]
rs45622542	0.81[EUR][1000 genomes]
rs56383558	0.82[EUR][1000 genomes]
rs56960933	0.87[ASN][1000 genomes]
rs61995461	0.81[EUR][1000 genomes]
rs61995462	0.81[EUR][1000 genomes]
rs61995463	0.81[EUR][1000 genomes]
rs61995493	0.81[EUR][1000 genomes]
rs61995494	0.80[EUR][1000 genomes]
rs61995495	0.81[EUR][1000 genomes]
rs61995497	0.82[EUR][1000 genomes]
rs61995498	0.81[EUR][1000 genomes]
rs61995500	0.84[EUR][1000 genomes]
rs61995535	0.89[ASN][1000 genomes]
rs6575166	0.89[ASN][1000 genomes]
rs6575167	0.87[ASN][1000 genomes]
rs7140961	0.89[ASN][1000 genomes]
rs7149338	0.87[ASN][1000 genomes]
rs7153417	0.87[ASN][1000 genomes]
rs72671250	0.82[EUR][1000 genomes]
rs8009806	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
2	chr14:20749200-20773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:20758000-20773200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:20764200-20773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:20767400-20773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:20767600-20773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:20767600-20773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:20767600-20773400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:20767600-20773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:20767600-20773400	Weak transcription	HSMMtube	muscle
11	chr14:20768000-20773200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:20768400-20773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:20768800-20773400	Weak transcription	Right Ventricle	heart
14	chr14:20769000-20773200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:20769000-20773200	Weak transcription	NHDF-Ad	bronchial
16	chr14:20769000-20773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:20769000-20773400	Weak transcription	Colonic Mucosa	Colon
18	chr14:20769000-20773400	Weak transcription	Fetal Thymus	thymus
19	chr14:20769000-20773400	Weak transcription	Lung	lung
20	chr14:20769000-20773400	Weak transcription	Spleen	Spleen
21	chr14:20769000-20773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:20769600-20773200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:20769600-20773200	Weak transcription	Small Intestine	intestine
24	chr14:20769600-20773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:20769600-20773400	Weak transcription	Placenta	Placenta
26	chr14:20769800-20773400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:20770000-20773000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:20770000-20773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:20770000-20773200	Weak transcription	Fetal Kidney	kidney
30	chr14:20770000-20773200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:20770200-20773200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:20770200-20773200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:20770200-20773200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:20770200-20773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:20770200-20773200	Weak transcription	Aorta	Aorta
36	chr14:20770200-20773200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:20770200-20773400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:20770200-20773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:20770200-20773400	Weak transcription	Left Ventricle	heart
40	chr14:20770400-20773000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:20770400-20773200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:20770400-20773200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:20770400-20773200	Weak transcription	Fetal Stomach	stomach
44	chr14:20770400-20773400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:20770400-20773400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:20770400-20773400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:20770400-20773400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:20770400-20773400	Weak transcription	Esophagus	oesophagus
49	chr14:20770400-20773400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:20770400-20773400	Weak transcription	Fetal Muscle Leg	muscle

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