Variant report

Variant	rs58895407
Chromosome Location	chr14:64931546-64931547
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	NFYB	chr14:64931456-64931681	K562	blood:	n/a	n/a
2	POLR2A	chr14:64931210-64932926	A549	lung:	n/a	n/a
3	RUNX3	chr14:64931478-64932249	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:64927628-64931783	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:64931427-64932347	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:64931188-64932858	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:64931541-64931839	U87	brain:	n/a	n/a
8	E2F6	chr14:64931462-64932286	H1-hESC	embryonic stem cell:	n/a	chr14:64931943-64931952 chr14:64932202-64932212 chr14:64932204-64932213 chr14:64931940-64931952 chr14:64931779-64931788
9	NFYB	chr14:64931439-64932330	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:64931384-64932071	U87	brain:	n/a	n/a
11	POLR2A	chr14:64928654-64932081	K562	blood:	n/a	n/a
12	POLR2A	chr14:64931274-64932433	GM12878	blood:	n/a	n/a
13	ATF2	chr14:64931536-64932022	GM12878	blood:	n/a	n/a
14	MAZ	chr14:64931534-64933003	IMR90	lung:	n/a	n/a
15	BCL3	chr14:64931217-64932024	A549	lung:	n/a	chr14:64931942-64931951
16	POLR2A	chr14:64931430-64931731	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr14:64931450-64931950	GM12892	blood:	n/a	n/a
18	MAX	chr14:64931539-64932077	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chr14:64931454-64932337	GM12878	blood:	n/a	chr14:64932243-64932261 chr14:64931463-64931478
20	POLR2A	chr14:64931239-64932571	MCF-7	breast:	n/a	n/a
21	SIN3A	chr14:64931352-64932989	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:64931422-64931839	U87	brain:	n/a	n/a
23	MAX	chr14:64931504-64933038	A549	lung:	n/a	n/a
24	POLR2A	chr14:64930665-64932513	HepG2	liver:	n/a	n/a
25	MTA3	chr14:64931435-64932126	GM12878	blood:	n/a	n/a
26	MAX	chr14:64931358-64933044	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:64931390-64932071	U87	brain:	n/a	n/a
28	HA-E2F1	chr14:64931529-64932929	MCF-7	breast:	n/a	chr14:64931943-64931952 chr14:64932202-64932212 chr14:64932204-64932213 chr14:64931940-64931952 chr14:64931779-64931788
29	POLR2A	chr14:64931455-64931606	Hela-S3	cervix:	n/a	n/a
30	MAX	chr14:64931458-64932347	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr14:64931324-64932794	H1-hESC	embryonic stem cell:	n/a	n/a
32	PML	chr14:64931173-64932298	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:64931101-64933166	SK-N-MC	brain:	n/a	n/a
34	MAX	chr14:64931544-64931793	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:64931244-64931751	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64930987..64933079-chr14:64967526..64973126,5	K562	blood:
2	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
3	chr14:64901956..64903904-chr14:64931044..64932643,2	MCF-7	breast:
4	chr14:64930172..64935199-chr14:64969400..64972494,10	MCF-7	breast:
5	chr14:64930505..64934030-chr14:64968774..64972974,8	MCF-7	breast:
6	chr14:64930987..64933266-chr14:64970240..64972986,3	K562	blood:

Variant related genes	Relation type
AKAP5	TF binding region
ENSG00000140009	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10498514	0.87[ASN][1000 genomes]
rs17101851	0.87[ASN][1000 genomes]
rs2236223	1.00[ASN][1000 genomes]
rs2295638	0.87[ASN][1000 genomes]
rs2295639	0.87[ASN][1000 genomes]
rs45470505	1.00[ASN][1000 genomes]
rs45564031	1.00[ASN][1000 genomes]
rs45621638	1.00[ASN][1000 genomes]
rs55865913	1.00[AMR][1000 genomes]
rs57092929	0.87[ASN][1000 genomes]
rs57464458	1.00[ASN][1000 genomes]
rs57528409	1.00[ASN][1000 genomes]
rs57567940	1.00[ASN][1000 genomes]
rs57778315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58680755	1.00[ASN][1000 genomes]
rs59096477	0.87[ASN][1000 genomes]
rs59397130	0.87[ASN][1000 genomes]
rs59403712	0.87[ASN][1000 genomes]
rs59422037	0.87[ASN][1000 genomes]
rs59470472	1.00[ASN][1000 genomes]
rs59686564	0.87[ASN][1000 genomes]
rs59770063	0.87[ASN][1000 genomes]
rs60063929	0.87[ASN][1000 genomes]
rs60438614	1.00[AMR][1000 genomes]
rs60441024	1.00[ASN][1000 genomes]
rs60531860	1.00[ASN][1000 genomes]
rs60736633	1.00[ASN][1000 genomes]
rs60806768	0.87[ASN][1000 genomes]
rs61107070	0.87[ASN][1000 genomes]
rs73263765	0.87[ASN][1000 genomes]
rs73263767	0.87[ASN][1000 genomes]
rs73263770	0.87[ASN][1000 genomes]
rs73263773	0.87[ASN][1000 genomes]
rs73263781	0.87[ASN][1000 genomes]
rs73263782	0.87[ASN][1000 genomes]
rs73277975	0.87[ASN][1000 genomes]
rs73277976	0.87[ASN][1000 genomes]
rs73277979	0.87[ASN][1000 genomes]
rs74056433	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74056441	1.00[ASN][1000 genomes]
rs74056444	1.00[ASN][1000 genomes]
rs74058118	1.00[AMR][1000 genomes]
rs74058132	1.00[AMR][1000 genomes]
rs74058135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8019215	0.87[ASN][1000 genomes]
rs8022867	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:64922800-64931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:64923000-64931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:64923000-64931600	Weak transcription	Pancreas	Pancrea
6	chr14:64923000-64931800	Weak transcription	Esophagus	oesophagus
7	chr14:64923000-64931800	Weak transcription	Gastric	stomach
8	chr14:64923400-64931600	Weak transcription	Left Ventricle	heart
9	chr14:64925800-64931600	Weak transcription	Right Ventricle	heart
10	chr14:64926400-64931600	Weak transcription	Ovary	ovary
11	chr14:64926800-64931600	Weak transcription	Psoas Muscle	Psoas
12	chr14:64928200-64931800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:64928200-64948000	Weak transcription	Hela-S3	cervix
14	chr14:64929200-64931600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:64929800-64931600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:64930600-64931600	Flanking Active TSS	GM12878-XiMat	blood
17	chr14:64930800-64931800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:64931000-64931600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:64931200-64931600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:64931200-64931600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:64931200-64931600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:64931200-64931600	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr14:64931200-64931600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr14:64931200-64931600	Enhancers	Fetal Stomach	stomach
25	chr14:64931200-64931800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:64931200-64931800	Flanking Active TSS	Liver	Liver
27	chr14:64931200-64931800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr14:64931200-64931800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr14:64931200-64931800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:64931200-64931800	Flanking Active TSS	HMEC	breast
31	chr14:64931200-64931800	Flanking Active TSS	NH-A	brain
32	chr14:64931200-64932000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr14:64931200-64932000	Enhancers	Spleen	Spleen
34	chr14:64931200-64933200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:64931400-64931600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:64931400-64931600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:64931400-64931600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr14:64931400-64931600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:64931400-64931600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:64931400-64931600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:64931400-64931600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:64931400-64931600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:64931400-64931600	Enhancers	Adipose Nuclei	Adipose
44	chr14:64931400-64931600	Flanking Active TSS	Aorta	Aorta
45	chr14:64931400-64931600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr14:64931400-64931600	Enhancers	Brain Substantia Nigra	brain
47	chr14:64931400-64931600	Flanking Active TSS	Colonic Mucosa	Colon
48	chr14:64931400-64931600	Enhancers	Fetal Brain Male	brain
49	chr14:64931400-64931600	Enhancers	Placenta	Placenta
50	chr14:64931400-64931600	Enhancers	Fetal Thymus	thymus

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