Variant report

Variant	rs11691225
Chromosome Location	chr2:47083252-47083253
allele	G/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	EP300	chr2:47082259-47083290	Hela-S3	cervix:	n/a	chr2:47082487-47082496 chr2:47082537-47082546 chr2:47082262-47082276 chr2:47082538-47082547
2	FOS	chr2:47082279-47083323	MCF10A-Er-Src	breast:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082536-47082547 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
3	TCF12	chr2:47081981-47083390	SK-N-SH	brain:	n/a	chr2:47082192-47082202 chr2:47082699-47082709
4	STAT3	chr2:47082279-47083284	MCF10A-Er-Src	breast:	n/a	chr2:47082537-47082546 chr2:47082538-47082547
5	JUND	chr2:47082272-47083337	Hela-S3	cervix:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082536-47082547 chr2:47082487-47082494
6	FOS	chr2:47082299-47083323	MCF10A-Er-Src	breast:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082536-47082547 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
7	SMC3	chr2:47082301-47083341	Hela-S3	cervix:	n/a	n/a
8	SP1	chr2:47081974-47083640	HCT-116	colon:	n/a	chr2:47082701-47082715 chr2:47082694-47082708 chr2:47083613-47083622
9	EP300	chr2:47082041-47083454	SK-N-SH	brain:	n/a	chr2:47082487-47082496 chr2:47082537-47082546 chr2:47082262-47082276 chr2:47082538-47082547
10	MAX	chr2:47081386-47084203	A549	lung:	n/a	chr2:47083633-47083643 chr2:47083889-47083899 chr2:47082487-47082496 chr2:47082537-47082546 chr2:47082693-47082703 chr2:47082538-47082547
11	FOSL2	chr2:47081694-47083477	A549	lung:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
12	MYC	chr2:47082299-47083266	MCF10A-Er-Src	breast:	n/a	chr2:47082487-47082496 chr2:47082537-47082546 chr2:47082693-47082703 chr2:47082538-47082547
13	FOSL1	chr2:47081768-47083460	HCT-116	colon:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
14	CHD2	chr2:47082291-47083272	Hela-S3	cervix:	n/a	n/a
15	JUND	chr2:47081997-47083410	HCT-116	colon:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082536-47082547 chr2:47082487-47082494
16	EP300	chr2:47081815-47083256	A549	lung:	n/a	chr2:47082487-47082496 chr2:47082537-47082546 chr2:47082262-47082276 chr2:47082538-47082547
17	FOS	chr2:47082281-47083282	MCF10A-Er-Src	breast:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082536-47082547 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
18	FOS	chr2:47082268-47083321	MCF10A-Er-Src	breast:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082536-47082547 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
19	RFX5	chr2:47082264-47083293	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr2:47081920-47083529	SK-N-SH	brain:	n/a	chr2:47082192-47082202 chr2:47082699-47082709
21	RCOR1	chr2:47082171-47083360	Hela-S3	cervix:	n/a	n/a
22	JUND	chr2:47081996-47083816	SK-N-SH	brain:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082536-47082547 chr2:47082487-47082494
23	TCF12	chr2:47081827-47083769	A549	lung:	n/a	chr2:47082192-47082202 chr2:47082699-47082709
24	CEBPB	chr2:47082264-47083361	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr2:47082345-47083267	Hela-S3	cervix:	n/a	n/a
26	JUN	chr2:47082292-47083289	Hela-S3	cervix:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
27	GATA3	chr2:47081894-47083304	A549	lung:	n/a	chr2:47082669-47082679
28	STAT3	chr2:47082255-47083324	MCF10A-Er-Src	breast:	n/a	chr2:47082537-47082546 chr2:47082538-47082547
29	FOSL2	chr2:47082073-47083464	SK-N-SH	brain:	n/a	chr2:47082538-47082546 chr2:47082538-47082545 chr2:47082537-47082547 chr2:47082536-47082548 chr2:47082487-47082495 chr2:47082486-47082496 chr2:47082537-47082546 chr2:47082487-47082495 chr2:47082485-47082497 chr2:47082487-47082494
30	CEBPB	chr2:47082276-47083347	A549	lung:	n/a	n/a
31	GATA3	chr2:47081959-47083283	SK-N-SH	brain:	n/a	chr2:47082669-47082679

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47072385..47074201-chr2:47081615..47083494,2	K562	blood:

Variant related genes	Relation type
ENSG00000226548	TF binding region
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10171029	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11125099	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11676288	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11687528	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11687608	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12466355	0.85[JPT][hapmap]
rs12468594	0.86[JPT][hapmap]
rs12990097	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003608	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17035808	0.86[CHB][hapmap]
rs35076028	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6544932	0.93[JPT][hapmap]
rs6742192	0.82[CEU][hapmap]
rs8622	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription 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	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47075200-47084400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:47077200-47086200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:47078000-47083400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:47078000-47085200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:47078000-47085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:47080600-47085000	Weak transcription	K562	blood
7	chr2:47080800-47084200	Enhancers	Left Ventricle	heart
8	chr2:47080800-47103600	Enhancers	Placenta	Placenta
9	chr2:47081200-47083800	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:47081200-47087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:47081400-47083400	Enhancers	NHLF	lung
12	chr2:47081400-47083600	Enhancers	Fetal Stomach	stomach
13	chr2:47081400-47083800	Enhancers	Colon Smooth Muscle	Colon
14	chr2:47081400-47083800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:47081400-47083800	Enhancers	HSMMtube	muscle
16	chr2:47081400-47084000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:47081400-47086400	Enhancers	HMEC	breast
18	chr2:47081400-47086600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:47081400-47087200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:47081400-47087800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
22	chr2:47081600-47083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:47081600-47083400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:47081600-47083400	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:47081600-47083600	Enhancers	Osteobl	bone
26	chr2:47081600-47084000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:47081600-47084000	Enhancers	Ovary	ovary
28	chr2:47081600-47084000	Enhancers	Right Atrium	heart
29	chr2:47081600-47084200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:47081600-47084200	Enhancers	Esophagus	oesophagus
31	chr2:47081600-47084200	Enhancers	Lung	lung
32	chr2:47081600-47084400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:47081600-47084400	Enhancers	HSMM	muscle
34	chr2:47081600-47085600	Enhancers	NH-A	brain
35	chr2:47081600-47087800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:47082000-47083600	Weak transcription	Spleen	Spleen
37	chr2:47082200-47083400	Flanking Active TSS	NHEK	skin
38	chr2:47082200-47084000	Flanking Active TSS	Hela-S3	cervix
39	chr2:47082200-47085000	Weak transcription	Small Intestine	intestine
40	chr2:47082200-47085200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:47082200-47085200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:47082200-47085400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:47082200-47089000	Weak transcription	Colonic Mucosa	Colon
44	chr2:47082400-47083400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:47082600-47083800	Enhancers	Fetal Intestine Small	intestine
46	chr2:47082800-47084400	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:47082800-47085000	Weak transcription	Fetal Lung	lung
48	chr2:47083000-47083600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:47083000-47083600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:47083000-47084000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links