Variant report

Variant	rs72720290
Chromosome Location	chr14:69728563-69728564
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	REST	chr14:69728561-69728901	SK-N-SH	brain:	n/a	chr14:69728737-69728746
2	CTCF	chr14:69728500-69728650	GM12875	blood:	n/a	n/a
3	CTBP2	chr14:69727025-69729465	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr14:69728487-69728609	HepG2	liver:	n/a	n/a
5	REST	chr14:69725769-69728816	H1-neurons	neurons:	n/a	chr14:69727673-69727686 chr14:69728737-69728746 chr14:69726368-69726381 chr14:69726451-69726464
6	HNF4G	chr14:69728484-69728838	HepG2	liver:	n/a	n/a
7	HNF4A	chr14:69728489-69728737	HepG2	liver:	n/a	n/a
8	HDAC2	chr14:69728447-69728732	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69716336..69718485-chr14:69728021..69730750,2	MCF-7	breast:
2	chr14:69727618..69729790-chr14:69814011..69815808,2	MCF-7	breast:
3	chr14:69727858..69730581-chr14:69738722..69740609,2	MCF-7	breast:
4	chr14:69725007..69726922-chr14:69727480..69730109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258520	TF binding region
ENSG00000100626	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11620883	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621144	1.00[ASN][1000 genomes]
rs11623999	1.00[AFR][1000 genomes]
rs2877537	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4389087	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45577339	1.00[AFR][1000 genomes]
rs55714609	0.93[EUR][1000 genomes]
rs55836617	0.93[EUR][1000 genomes]
rs56017572	1.00[ASN][1000 genomes]
rs56270411	0.93[EUR][1000 genomes]
rs59186728	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66471927	1.00[ASN][1000 genomes]
rs7144704	1.00[AFR][1000 genomes]
rs72718263	1.00[AFR][1000 genomes]
rs72718270	1.00[AFR][1000 genomes]
rs72718279	1.00[AFR][1000 genomes]
rs72720275	0.93[EUR][1000 genomes]
rs72720276	0.93[EUR][1000 genomes]
rs72720277	0.93[EUR][1000 genomes]
rs72720278	0.93[EUR][1000 genomes]
rs72720280	0.93[EUR][1000 genomes]
rs72720285	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720298	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8008141	1.00[AFR][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	esv3421651	chr14:69725724-69728572	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3363263	chr14:69725949-69729047	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69725800-69728600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:69726000-69728600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:69726000-69728600	Active TSS	Right Atrium	heart
4	chr14:69726400-69728600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr14:69726400-69728600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr14:69726400-69728600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr14:69726400-69728600	Active TSS	Left Ventricle	heart
8	chr14:69726400-69728800	Active TSS	Fetal Intestine Small	intestine
9	chr14:69726400-69729000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:69726400-69729000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr14:69727000-69728600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:69727000-69728800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
13	chr14:69727400-69728600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr14:69727400-69728600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr14:69727400-69728800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr14:69727400-69729000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr14:69727600-69728600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:69727600-69728600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr14:69727600-69728600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr14:69727600-69728600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr14:69727600-69728600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr14:69727600-69729000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:69727600-69729200	Enhancers	Fetal Heart	heart
24	chr14:69727800-69728600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:69727800-69728600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:69727800-69728600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:69727800-69728800	Enhancers	Lung	lung
28	chr14:69727800-69729200	Active TSS	Rectal Smooth Muscle	rectum
29	chr14:69727800-69729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:69727800-69730200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:69728000-69728600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:69728000-69728600	Flanking Active TSS	Liver	Liver
33	chr14:69728000-69728600	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr14:69728000-69728800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:69728000-69729200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:69728200-69728600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:69728200-69728600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr14:69728200-69728600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr14:69728200-69728600	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr14:69728200-69728600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr14:69728200-69728600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr14:69728200-69728600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr14:69728200-69728800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr14:69728200-69728800	Bivalent Enhancer	NH-A	brain
45	chr14:69728200-69729000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:69728200-69729000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:69728200-69729000	Enhancers	Spleen	Spleen
48	chr14:69728200-69729000	Flanking Active TSS	HepG2	liver
49	chr14:69728200-69729000	Bivalent Enhancer	Osteobl	bone
50	chr14:69728200-69729400	Flanking Active TSS	NHDF-Ad	bronchial

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