Variant report

Variant	rs4243632
Chromosome Location	chr14:69447183-69447184
allele	C/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	MAX	chr14:69446717-69447230	NB4	blood:	n/a	n/a
2	POLR2A	chr14:69443844-69447350	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr14:69447045-69447185	MCF10A-Er-Src	breast:	n/a	chr14:69447073-69447083
4	E2F6	chr14:69446596-69447567	H1-hESC	embryonic stem cell:	n/a	chr14:69446689-69446701 chr14:69447064-69447076
5	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
6	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
7	ZNF143	chr14:69446735-69447205	H1-hESC	embryonic stem cell:	n/a	n/a
8	NR2F2	chr14:69445625-69447238	MCF-7	breast:	n/a	n/a
9	MAX	chr14:69446593-69447414	MCF-7	breast:	n/a	n/a
10	TCF12	chr14:69447020-69447208	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr14:69444455-69447300	H1-hESC	embryonic stem cell:	n/a	chr14:69444765-69444778 chr14:69444777-69444790 chr14:69445945-69445958 chr14:69445831-69445844
12	EP300	chr14:69444197-69447183	ECC-1	luminal epithelium:	n/a	chr14:69445444-69445460 chr14:69444809-69444825 chr14:69446463-69446477 chr14:69445133-69445142 chr14:69445465-69445481 chr14:69445645-69445661 chr14:69446770-69446786
13	RAD21	chr14:69446515-69447242	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:69444097-69447251	Hela-S3	cervix:	n/a	n/a
15	MAX	chr14:69446593-69447388	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F4	chr14:69446640-69447263	Hela-S3	cervix:	n/a	chr14:69446689-69446701 chr14:69447064-69447076
17	MYC	chr14:69446916-69447185	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr14:69445936-69447288	MCF10A-Er-Src	breast:	n/a	chr14:69446056-69446065 chr14:69446372-69446384 chr14:69446689-69446701 chr14:69446062-69446071 chr14:69447064-69447076 chr14:69445954-69445964
19	MAX	chr14:69444349-69447398	ECC-1	luminal epithelium:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
20	MAX	chr14:69446598-69447457	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr14:69444376-69447340	A549	lung:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
22	ATF2	chr14:69446597-69447196	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr14:69446601-69447367	MCF-7	breast:	n/a	n/a
24	MAX	chr14:69446963-69447202	HepG2	liver:	n/a	n/a
25	TAF1	chr14:69446946-69447237	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr14:69444325-69447439	A549	lung:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
27	MAX	chr14:69446756-69447366	HepG2	liver:	n/a	n/a
28	MAX	chr14:69446854-69447342	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr14:69446578-69447421	H1-hESC	embryonic stem cell:	n/a	chr14:69446689-69446701 chr14:69447064-69447076
30	TEAD4	chr14:69445684-69447234	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr14:69445773-69447283	ECC-1	luminal epithelium:	n/a	n/a
32	HCFC1	chr14:69443969-69447466	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr14:69442097-69447256	SK-N-SH	brain:	n/a	n/a
34	MAX	chr14:69446903-69447353	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr14:69445760-69447254	ECC-1	luminal epithelium:	n/a	n/a
36	TCF12	chr14:69445763-69447379	ECC-1	luminal epithelium:	n/a	chr14:69446152-69446160 chr14:69445831-69445841
37	RAD21	chr14:69446555-69447266	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr14:69444216-69447304	MCF-7	breast:	n/a	n/a
39	ZNF263	chr14:69446718-69447226	HEK293-T-REx	kidney:	n/a	chr14:69446840-69446849
40	SMARCB1	chr14:69444112-69447314	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr14:69444396-69447469	ECC-1	luminal epithelium:	n/a	n/a
42	CHD2	chr14:69446900-69447211	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr14:69442571-69447283	HUVEC	blood vessel:	n/a	n/a
44	HDAC2	chr14:69444386-69447310	MCF-7	breast:	n/a	chr14:69444425-69444439 chr14:69444771-69444790 chr14:69446464-69446478
45	HA-E2F1	chr14:69446712-69447275	MCF-7	breast:	n/a	chr14:69447064-69447076
46	MAX	chr14:69444505-69447270	Hela-S3	cervix:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
47	MXI1	chr14:69446763-69447214	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr14:69441290-69449923	IMR90	lung:	n/a	n/a
49	POLR2A	chr14:69442232-69447465	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69260551..69262457-chr14:69445515..69448155,2	MCF-7	breast:
2	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
3	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
4	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
5	chr14:69445219..69447444-chr3:183352751..183354827,2	MCF-7	breast:
6	chr14:69446981..69449965-chr14:69456787..69458702,2	K562	blood:

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000114796	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007407	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137547	0.96[ASN][1000 genomes]
rs10147976	0.96[ASN][1000 genomes]
rs12432970	0.87[ASN][1000 genomes]
rs12434478	0.87[ASN][1000 genomes]
rs17093668	0.83[ASN][1000 genomes]
rs17106670	0.87[ASN][1000 genomes]
rs2012750	0.96[ASN][1000 genomes]
rs2012764	0.96[ASN][1000 genomes]
rs2012785	0.96[ASN][1000 genomes]
rs2024892	0.83[ASN][1000 genomes]
rs2024893	0.83[ASN][1000 genomes]
rs2268968	0.83[ASN][1000 genomes]
rs2300875	0.96[ASN][1000 genomes]
rs28561965	0.96[ASN][1000 genomes]
rs4902682	0.87[ASN][1000 genomes]
rs7140680	0.84[EUR][1000 genomes]
rs7149487	0.87[ASN][1000 genomes]
rs72733548	0.83[ASN][1000 genomes]
rs8016537	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3449858	chr14:69443549-69447697	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69443600-69447200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:69443800-69447200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:69443800-69447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:69444000-69447200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:69444000-69447200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr14:69444200-69447200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:69444200-69447200	Active TSS	Brain Hippocampus Middle	brain
8	chr14:69444200-69447400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:69444400-69447200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:69444400-69447200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:69444400-69447200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr14:69444400-69447200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr14:69444400-69447200	Active TSS	Fetal Brain Female	brain
14	chr14:69444400-69447400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:69444600-69447200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:69444600-69447400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:69446200-69447200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr14:69446200-69447200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:69446600-69447200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:69446600-69447200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr14:69446600-69447200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr14:69446600-69447200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr14:69446600-69447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:69446600-69447200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr14:69446600-69447200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr14:69446600-69447400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr14:69446600-69447400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69446600-69447400	Flanking Active TSS	NH-A	brain
29	chr14:69446600-69448000	Weak transcription	Spleen	Spleen
30	chr14:69446800-69447200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:69446800-69447200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:69446800-69447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69446800-69447200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:69446800-69447200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:69446800-69447200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr14:69446800-69447200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr14:69446800-69447200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr14:69446800-69447200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:69446800-69447200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr14:69446800-69447200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr14:69446800-69447200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr14:69446800-69447200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr14:69446800-69447200	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr14:69446800-69447200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr14:69446800-69447200	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr14:69446800-69447200	Flanking Active TSS	Fetal Lung	lung
47	chr14:69446800-69447200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:69446800-69447200	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr14:69446800-69447200	Flanking Active TSS	Right Ventricle	heart
50	chr14:69446800-69447200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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