Variant report

Variant	rs72642552
Chromosome Location	chr14:31713335-31713336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:31713053-31713587	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL1	chr14:31712989-31713682	HCT-116	colon:	n/a	n/a
3	MAFF	chr14:31713002-31713357	K562	blood:	n/a	n/a
4	SPI1	chr14:31713267-31713587	HL-60	blood:	n/a	n/a
5	MAFK	chr14:31713147-31713431	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr14:31713253-31713448	GM12878	blood:	n/a	chr14:31713355-31713366 chr14:31713380-31713391
7	MAFK	chr14:31713119-31713379	K562	blood:	n/a	n/a
8	POLR2A	chr14:31712986-31713511	HCT-116	colon:	n/a	n/a
9	MYC	chr14:31712970-31713378	K562	blood:	n/a	n/a
10	STAT3	chr14:31713121-31713524	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr14:31712987-31713699	ECC-1	luminal epithelium:	n/a	n/a
12	SPI1	chr14:31713222-31713548	GM12891	blood:	n/a	n/a
13	STAT3	chr14:31713122-31713491	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr14:31712973-31713482	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:31713043-31713587	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr14:31713183-31713341	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr14:31713126-31713481	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr14:31712986-31713503	MCF10A-Er-Src	breast:	n/a	n/a
19	JUND	chr14:31712938-31713672	HCT-116	colon:	n/a	n/a
20	FOSL2	chr14:31713123-31713543	MCF-7	breast:	n/a	n/a
21	POLR2A	chr14:31712942-31713629	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr14:31713064-31713408	H1-hESC	embryonic stem cell:	n/a	n/a
23	FOSL1	chr14:31712948-31713714	HCT-116	colon:	n/a	n/a
24	USF1	chr14:31713003-31713402	ECC-1	luminal epithelium:	n/a	n/a
25	TBP	chr14:31713100-31713349	K562	blood:	n/a	n/a
26	MAX	chr14:31712657-31713672	HCT-116	colon:	n/a	n/a
27	SP1	chr14:31712933-31714036	HCT-116	colon:	n/a	n/a
28	MYC	chr14:31712912-31713403	K562	blood:	n/a	n/a
29	FOS	chr14:31713054-31713578	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr14:31713002-31713653	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr14:31712894-31713475	ECC-1	luminal epithelium:	n/a	n/a
32	BACH1	chr14:31713147-31713431	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr14:31713219-31713432	K562	blood:	n/a	n/a
34	STAT3	chr14:31713292-31713470	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr14:31712963-31713375	K562	blood:	n/a	n/a
36	POLR2A	chr14:31712915-31713539	HCT-116	colon:	n/a	n/a
37	MAX	chr14:31712666-31713648	HCT-116	colon:	n/a	n/a
38	MAX	chr14:31713077-31713459	MCF-7	breast:	n/a	n/a
39	YY1	chr14:31713073-31713438	HCT-116	colon:	n/a	n/a
40	USF1	chr14:31713105-31713390	ECC-1	luminal epithelium:	n/a	n/a
41	EP300	chr14:31713132-31713346	K562	blood:	n/a	n/a
42	SP1	chr14:31712893-31713651	HCT-116	colon:	n/a	n/a
43	JUND	chr14:31712927-31713719	HCT-116	colon:	n/a	n/a
44	STAT3	chr14:31713150-31713511	MCF10A-Er-Src	breast:	n/a	n/a
45	RCOR1	chr14:31713106-31713385	K562	blood:	n/a	n/a
46	JUND	chr14:31713062-31713485	K562	blood:	n/a	n/a
47	ATF1	chr14:31713059-31713378	K562	blood:	n/a	n/a
48	MYC	chr14:31712973-31713559	MCF10A-Er-Src	breast:	n/a	n/a
49	MAX	chr14:31713072-31713429	ECC-1	luminal epithelium:	n/a	n/a
50	FOS	chr14:31713099-31713567	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31705909..31709311-chr14:31711142..31713834,3	K562	blood:
2	chr14:31705909..31710425-chr14:31710546..31713834,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202402	TF binding region
ENSG00000257831	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12590908	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4378534	0.93[ASN][1000 genomes]
rs59419511	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72642548	0.82[ASN][1000 genomes]
rs72642549	0.97[ASN][1000 genomes]
rs72642550	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72642551	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31713400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
3	chr14:31709000-31713800	Enhancers	K562	blood
4	chr14:31710600-31715200	Enhancers	Stomach Mucosa	stomach
5	chr14:31711400-31714000	Weak transcription	A549	lung
6	chr14:31711400-31716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:31711600-31720400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:31711800-31713600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:31712000-31714800	Weak transcription	Ovary	ovary
10	chr14:31712200-31714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:31712200-31714800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:31712400-31713800	Enhancers	Esophagus	oesophagus
13	chr14:31712400-31713800	Enhancers	Hela-S3	cervix
14	chr14:31712400-31714200	Enhancers	NHEK	skin
15	chr14:31712600-31714200	Enhancers	HMEC	breast
16	chr14:31713000-31713400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:31713000-31713600	Weak transcription	Lung	lung
18	chr14:31713000-31714200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:31713000-31714200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:31713000-31714200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:31713000-31714200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:31713000-31714200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr14:31713200-31713400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:31713200-31713800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:31713200-31713800	Enhancers	Placenta	Placenta
26	chr14:31713200-31713800	Enhancers	Small Intestine	intestine
27	chr14:31713200-31714200	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links