Variant report

Variant	rs17070053
Chromosome Location	chr5:167715671-167715672
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	MXI1	chr5:167715321-167715760	Hela-S3	cervix:	n/a	n/a
2	USF1	chr5:167715351-167715747	A549	lung:	n/a	chr5:167715559-167715570
3	CEBPB	chr5:167715462-167715739	HepG2	liver:	n/a	n/a
4	MAX	chr5:167715044-167716196	HCT-116	colon:	n/a	chr5:167715154-167715161
5	ZBTB33	chr5:167715284-167715732	HCT-116	colon:	n/a	n/a
6	SP1	chr5:167715094-167715948	HCT-116	colon:	n/a	chr5:167715399-167715413
7	FOS	chr5:167715361-167715821	MCF10A-Er-Src	breast:	n/a	n/a
8	USF2	chr5:167715341-167715766	Hela-S3	cervix:	n/a	n/a
9	EP300	chr5:167715156-167715890	ECC-1	luminal epithelium:	n/a	chr5:167715796-167715810 chr5:167715697-167715706
10	TBP	chr5:167715424-167715878	Hela-S3	cervix:	n/a	n/a
11	MAX	chr5:167715386-167715707	HepG2	liver:	n/a	n/a
12	NR2F2	chr5:167715118-167715910	MCF-7	breast:	n/a	n/a
13	ESR1	chr5:167715231-167715700	ECC-1	luminal epithelium:	n/a	n/a
14	GTF2F1	chr5:167715139-167715858	Hela-S3	cervix:	n/a	n/a
15	MAFK	chr5:167715338-167715808	Hela-S3	cervix:	n/a	n/a
16	FOSL1	chr5:167715320-167715871	HCT-116	colon:	n/a	n/a
17	JUND	chr5:167715403-167715714	HepG2	liver:	n/a	chr5:167715545-167715556
18	POLR2A	chr5:167715466-167715819	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr5:167715110-167715811	ECC-1	luminal epithelium:	n/a	chr5:167715372-167715386
20	EP300	chr5:167715015-167716055	ECC-1	luminal epithelium:	n/a	chr5:167715796-167715810 chr5:167715697-167715706
21	CREB1	chr5:167715306-167715797	ECC-1	luminal epithelium:	n/a	n/a
22	YY1	chr5:167715408-167715709	HCT-116	colon:	n/a	n/a
23	POLR2A	chr5:167715442-167715758	Hela-S3	cervix:	n/a	n/a
24	YY1	chr5:167715295-167715777	ECC-1	luminal epithelium:	n/a	n/a
25	CHD2	chr5:167715353-167715690	HepG2	liver:	n/a	n/a
26	NFIC	chr5:167715105-167716032	ECC-1	luminal epithelium:	n/a	n/a
27	USF1	chr5:167715353-167715788	A549	lung:	n/a	chr5:167715559-167715570
28	ARID3A	chr5:167715327-167715782	HepG2	liver:	n/a	n/a
29	USF2	chr5:167715399-167715727	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr5:167715150-167715948	HCT-116	colon:	n/a	n/a
31	E2F6	chr5:167715045-167715878	A549	lung:	n/a	n/a
32	SMC3	chr5:167715212-167715790	Hela-S3	cervix:	n/a	n/a
33	JUN	chr5:167715371-167715801	Hela-S3	cervix:	n/a	chr5:167715589-167715602
34	MAX	chr5:167715064-167716325	A549	lung:	n/a	chr5:167715154-167715161
35	EP300	chr5:167715416-167716004	Hela-S3	cervix:	n/a	chr5:167715796-167715810 chr5:167715697-167715706
36	ESR1	chr5:167715237-167715759	ECC-1	luminal epithelium:	n/a	n/a
37	TCF7L2	chr5:167715301-167715817	MCF-7	breast:	n/a	chr5:167715497-167715511
38	JUND	chr5:167715120-167715889	HCT-116	colon:	n/a	chr5:167715545-167715556
39	MAX	chr5:167715193-167716209	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr5:167715102-167715865	HCT-116	colon:	n/a	n/a
41	FOS	chr5:167715366-167715809	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr5:167715053-167716315	ECC-1	luminal epithelium:	n/a	chr5:167715154-167715161
43	USF1	chr5:167715380-167715791	A549	lung:	n/a	chr5:167715559-167715570
44	FOSL2	chr5:167715355-167715742	HepG2	liver:	n/a	n/a
45	GATA3	chr5:167715305-167715784	T-47D	breast:	n/a	n/a
46	CEBPB	chr5:167715329-167715847	ECC-1	luminal epithelium:	n/a	n/a
47	FOSL2	chr5:167715360-167715746	A549	lung:	n/a	n/a
48	USF1	chr5:167715347-167715733	A549	lung:	n/a	chr5:167715559-167715570
49	STAT3	chr5:167715385-167715697	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:167714103-167716468	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167707162..167711471-chr5:167712924..167716772,5	MCF-7	breast:
2	chr5:167715103..167716016-chr5:167743078..167744063,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10066443	1.00[EUR][1000 genomes]
rs17051827	1.00[EUR][1000 genomes]
rs17070064	1.00[EUR][1000 genomes]
rs17070070	1.00[EUR][1000 genomes]
rs17070086	1.00[EUR][1000 genomes]
rs17070088	1.00[EUR][1000 genomes]
rs2015380	1.00[EUR][1000 genomes]
rs73801872	1.00[EUR][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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167704600-167718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:167709600-167718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:167709600-167718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167709600-167718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:167712600-167718400	Weak transcription	Gastric	stomach
6	chr5:167713000-167718000	Enhancers	Fetal Brain Male	brain
7	chr5:167713200-167718200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167713400-167717800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:167713400-167718000	Enhancers	GM12878-XiMat	blood
10	chr5:167713600-167718000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:167713600-167718000	Enhancers	Placenta	Placenta
12	chr5:167713800-167717800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:167713800-167718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:167714000-167718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:167714400-167716600	Enhancers	Fetal Kidney	kidney
16	chr5:167714400-167717400	Enhancers	Fetal Intestine Large	intestine
17	chr5:167714600-167718200	Enhancers	Fetal Intestine Small	intestine
18	chr5:167714800-167716200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr5:167715000-167716200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:167715000-167716200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:167715200-167715800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:167715200-167715800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:167715200-167715800	Enhancers	Esophagus	oesophagus
24	chr5:167715200-167716000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:167715200-167716200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:167715200-167716200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:167715200-167716200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:167715200-167716200	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr5:167715200-167716400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:167715200-167716400	Enhancers	Pancreas	Pancrea
31	chr5:167715200-167716400	Flanking Active TSS	Hela-S3	cervix
32	chr5:167715200-167716400	Flanking Active TSS	NHEK	skin
33	chr5:167715200-167716600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:167715200-167717200	Enhancers	Stomach Mucosa	stomach
35	chr5:167715400-167715800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr5:167715400-167715800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:167715400-167715800	Enhancers	Brain Anterior Caudate	brain
38	chr5:167715400-167715800	Active TSS	Colonic Mucosa	Colon
39	chr5:167715400-167715800	Active TSS	Duodenum Mucosa	Duodenum
40	chr5:167715400-167716200	Enhancers	Fetal Brain Female	brain
41	chr5:167715400-167716400	Flanking Active TSS	A549	lung
42	chr5:167715600-167715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:167715600-167715800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:167715600-167715800	Flanking Active TSS	Liver	Liver
45	chr5:167715600-167715800	Flanking Active TSS	NH-A	brain
46	chr5:167715600-167716000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr5:167715600-167716000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:167715600-167716000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:167715600-167716200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:167715600-167716200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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