Variant report

Variant	rs58557583
Chromosome Location	chr14:45367057-45367058
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	POLR2A	chr14:45366720-45367277	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:45366130-45367270	ECC-1	luminal epithelium:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
3	MYC	chr14:45366227-45367268	MCF10A-Er-Src	breast:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
4	MAX	chr14:45366101-45367312	HepG2	liver:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
5	POLR2A	chr14:45366328-45367302	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:45366207-45367259	GM19193	blood:	n/a	n/a
7	POLR2A	chr14:45366408-45367222	HCT-116	colon:	n/a	n/a
8	YY1	chr14:45366416-45367184	ECC-1	luminal epithelium:	n/a	chr14:45366720-45366731 chr14:45366465-45366476 chr14:45366967-45366978 chr14:45366585-45366599 chr14:45366722-45366731 chr14:45366719-45366728 chr14:45366579-45366593 chr14:45366586-45366600 chr14:45366894-45366903 chr14:45366722-45366736 chr14:45366716-45366730
9	SIN3A	chr14:45366154-45367375	H1-hESC	embryonic stem cell:	n/a	chr14:45366967-45366980 chr14:45366565-45366574 chr14:45367006-45367019 chr14:45366851-45366865
10	POLR2A	chr14:45366162-45367265	ECC-1	luminal epithelium:	n/a	n/a
11	E2F4	chr14:45366928-45367203	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:45366215-45367289	HCT-116	colon:	n/a	n/a
13	MYBL2	chr14:45366809-45367272	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr14:45366436-45367239	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr14:45366689-45367240	GM12878	blood:	n/a	n/a
16	NFATC1	chr14:45366848-45367308	GM12878	blood:	n/a	n/a
17	MAX	chr14:45366927-45367310	H1-hESC	embryonic stem cell:	n/a	chr14:45367078-45367087 chr14:45367078-45367088
18	POLR2A	chr14:45366281-45367412	GM12892	blood:	n/a	n/a
19	ELF1	chr14:45366842-45367067	HepG2	liver:	n/a	chr14:45366889-45366901
20	CCNT2	chr14:45366316-45367150	K562	blood:	n/a	chr14:45366458-45366467 chr14:45366465-45366474
21	POLR2A	chr14:45366329-45367159	Raji	blood:	n/a	n/a
22	MAX	chr14:45366207-45367369	Hela-S3	cervix:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
23	JUND	chr14:45366410-45367165	H1-hESC	embryonic stem cell:	n/a	chr14:45366936-45366945
24	POLR2A	chr14:45365431-45368515	HepG2	liver:	n/a	n/a
25	MAZ	chr14:45365893-45367994	IMR90	lung:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
26	POLR2A	chr14:45366091-45367273	GM19099	blood:	n/a	n/a
27	POLR2A	chr14:45366270-45367204	A549	lung:	n/a	n/a
28	SIN3AK20	chr14:45366747-45367138	HepG2	liver:	n/a	n/a
29	ZMIZ1	chr14:45366456-45367140	K562	blood:	n/a	n/a
30	HDAC2	chr14:45366754-45367204	HepG2	liver:	n/a	chr14:45366846-45366865
31	E2F6	chr14:45366808-45367293	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr14:45366100-45367243	Hela-S3	cervix:	n/a	chr14:45366464-45366474
33	POLR2A	chr14:45366310-45367209	K562	blood:	n/a	n/a
34	MAX	chr14:45366248-45367204	K562	blood:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
35	POLR2A	chr14:45366708-45367314	HUVEC	blood vessel:	n/a	n/a
36	ZBTB7A	chr14:45366287-45367340	ECC-1	luminal epithelium:	n/a	n/a
37	TBP	chr14:45366982-45367106	K562	blood:	n/a	n/a
38	POLR2A	chr14:45366725-45367128	GM12891	blood:	n/a	n/a
39	POLR2A	chr14:45366309-45367203	GM12878	blood:	n/a	n/a
40	E2F6	chr14:45366486-45367386	H1-hESC	embryonic stem cell:	n/a	chr14:45366720-45366730 chr14:45366589-45366599
41	RCOR1	chr14:45367006-45367268	K562	blood:	n/a	n/a
42	POLR2A	chr14:45366097-45367302	GM12892	blood:	n/a	n/a
43	POLR2A	chr14:45366154-45367262	HUVEC	blood vessel:	n/a	n/a
44	TAF1	chr14:45366272-45367284	MCF-7	breast:	n/a	n/a
45	TAF1	chr14:45366747-45367261	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:45366130-45367287	MCF-7	breast:	n/a	n/a
47	MYC	chr14:45366894-45367171	HepG2	liver:	n/a	chr14:45367078-45367087 chr14:45367078-45367088
48	POLR2A	chr14:45366678-45367262	GM12892	blood:	n/a	n/a
49	RFX5	chr14:45366077-45367171	Hela-S3	cervix:	n/a	chr14:45366222-45366231
50	YY1	chr14:45366314-45367206	GM12892	blood:	n/a	chr14:45366720-45366731 chr14:45366465-45366476 chr14:45366967-45366978 chr14:45366585-45366599 chr14:45366722-45366731 chr14:45366719-45366728 chr14:45366579-45366593 chr14:45366586-45366600 chr14:45366894-45366903 chr14:45366722-45366736 chr14:45366716-45366730

No.	Distal block	Cell Line	Cell type
1	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
2	chr14:45366694..45367611-chr5:43483862..43484558,2	Hela-S3	cervix:
3	chr14:45355758..45358329-chr14:45365529..45367662,3	MCF-7	breast:
4	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
5	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
6	chr14:45366809..45367421-chr20:30192897..30193652,2	Hela-S3	cervix:
7	chr14:45366600..45367529-chr2:74006787..74007320,2	NB4	blood:
8	chr1:117452390..117454247-chr14:45365454..45368358,2	MCF-7	breast:
9	chr14:45366139..45368285-chr17:56735222..56738242,3	MCF-7	breast:
10	chr14:45366802..45368333-chr14:45390243..45392661,2	MCF-7	breast:
11	chr11:65485409..65487052-chr14:45365480..45368085,2	MCF-7	breast:
12	chr14:45366398..45367110-chr15:85197040..85197821,2	Hela-S3	cervix:
13	chr14:45366933..45369023-chr20:32256770..32258931,2	MCF-7	breast:
14	chr14:45366346..45369460-chr14:45369465..45372322,3	K562	blood:
15	chr1:55679625..55681662-chr14:45367033..45368986,2	MCF-7	breast:
16	chr14:45366357..45367186-chr17:76921338..76921990,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000258633	TF binding region
C14orf28	TF binding region
ENSG00000259046	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000177082	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000258509	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000125967	Chromatin interaction
ENSG00000162402	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000134247	Chromatin interaction
ENSG00000035862	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11846502	1.00[ASN][1000 genomes]
rs11847933	1.00[EUR][1000 genomes]
rs11851516	0.90[AFR][1000 genomes]
rs11851764	1.00[EUR][1000 genomes]
rs17115679	1.00[EUR][1000 genomes]
rs17115680	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115681	1.00[EUR][1000 genomes]
rs17115692	1.00[ASN][1000 genomes]
rs45550535	1.00[EUR][1000 genomes]
rs56988712	1.00[EUR][1000 genomes]
rs57147026	0.81[AFR][1000 genomes]
rs57261684	1.00[ASN][1000 genomes]
rs57494105	1.00[EUR][1000 genomes]
rs58152153	1.00[EUR][1000 genomes]
rs59698927	1.00[EUR][1000 genomes]
rs59992752	0.82[AFR][1000 genomes]
rs60713065	1.00[EUR][1000 genomes]
rs6572288	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334118	1.00[ASN][1000 genomes]
rs73334121	1.00[ASN][1000 genomes]
rs73347154	1.00[EUR][1000 genomes]
rs73347158	1.00[EUR][1000 genomes]
rs73347179	1.00[EUR][1000 genomes]
rs73347182	1.00[EUR][1000 genomes]
rs73347199	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348920	1.00[EUR][1000 genomes]
rs73348927	1.00[EUR][1000 genomes]
rs73348928	1.00[EUR][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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv3355498	chr14:45365427-45368175	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach
2	chr14:45365400-45368000	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:45365600-45367400	Active TSS	Brain Anterior Caudate	brain
4	chr14:45365600-45367400	Active TSS	Duodenum Mucosa	Duodenum
5	chr14:45365600-45367400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:45365600-45367600	Active TSS	Colonic Mucosa	Colon
7	chr14:45365600-45367600	Active TSS	Stomach Mucosa	stomach
8	chr14:45365600-45367600	Active TSS	K562	blood
9	chr14:45365600-45368000	Active TSS	Brain Angular Gyrus	brain
10	chr14:45365600-45368200	Active TSS	Aorta	Aorta
11	chr14:45365800-45367200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:45365800-45367200	Active TSS	Brain Hippocampus Middle	brain
13	chr14:45365800-45367400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:45365800-45367400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:45365800-45367400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr14:45365800-45367400	Active TSS	Pancreas	Pancrea
17	chr14:45365800-45367600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:45365800-45367600	Active TSS	HepG2	liver
19	chr14:45365800-45367600	Active TSS	HSMM	muscle
20	chr14:45365800-45367800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:45365800-45367800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:45365800-45367800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr14:45365800-45368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:45365800-45368000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr14:45365800-45368000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:45365800-45368000	Active TSS	Brain Cingulate Gyrus	brain
27	chr14:45365800-45368000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr14:45365800-45368000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr14:45365800-45368200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:45366000-45367200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:45366000-45367200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr14:45366000-45367200	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr14:45366000-45367200	Active TSS	HUVEC	blood vessel
34	chr14:45366000-45367200	Active TSS	Osteobl	bone
35	chr14:45366000-45367400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr14:45366000-45367400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:45366000-45367400	Active TSS	Brain Substantia Nigra	brain
38	chr14:45366000-45367400	Active TSS	Thymus	Thymus
39	chr14:45366000-45367400	Active TSS	NHEK	skin
40	chr14:45366000-45367600	Active TSS	Brain Germinal Matrix	brain
41	chr14:45366000-45367800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:45366000-45367800	Active TSS	Fetal Brain Female	brain
43	chr14:45366000-45367800	Active TSS	Fetal Intestine Large	intestine
44	chr14:45366000-45367800	Active TSS	Fetal Intestine Small	intestine
45	chr14:45366000-45367800	Active TSS	GM12878-XiMat	blood
46	chr14:45366000-45368000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr14:45366000-45368000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:45366000-45368000	Active TSS	Fetal Lung	lung
49	chr14:45366000-45368000	Active TSS	Fetal Muscle Leg	muscle
50	chr14:45366000-45368000	Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links