Variant report

Variant	rs12294549
Chromosome Location	chr11:65562246-65562247
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	MAZ	chr11:65562194-65562247	HepG2	liver:	n/a	n/a
2	HNF4A	chr11:65562123-65562441	HepG2	liver:	n/a	chr11:65562323-65562338 chr11:65562261-65562269 chr11:65562323-65562338 chr11:65562324-65562336 chr11:65562321-65562339 chr11:65562323-65562338 chr11:65562324-65562337 chr11:65562262-65562270 chr11:65562323-65562338 chr11:65562324-65562336 chr11:65562322-65562337 chr11:65562323-65562338
3	HNF4A	chr11:65562152-65562465	HepG2	liver:	n/a	chr11:65562323-65562338 chr11:65562261-65562269 chr11:65562323-65562338 chr11:65562324-65562336 chr11:65562321-65562339 chr11:65562323-65562338 chr11:65562324-65562337 chr11:65562262-65562270 chr11:65562323-65562338 chr11:65562324-65562336 chr11:65562322-65562337 chr11:65562323-65562338
4	RCOR1	chr11:65562140-65562370	HepG2	liver:	n/a	n/a
5	HNF4G	chr11:65562097-65562456	HepG2	liver:	n/a	chr11:65562323-65562338 chr11:65562261-65562269 chr11:65562323-65562338 chr11:65562324-65562336 chr11:65562321-65562339 chr11:65562323-65562338 chr11:65562324-65562337 chr11:65562262-65562270 chr11:65562323-65562338 chr11:65562324-65562336 chr11:65562323-65562338
6	RFX5	chr11:65562171-65562309	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65562246-65562296	NHBE	bronchial:	n/a
2	chr11:65562214-65562264	K562	blood:	n/a
3	chr11:65562246-65562296	AG04449	skin:	fetal
4	chr11:65562246-65562296	AG09309	skin:	n/a
5	chr11:65562214-65562264	MCF10A-Er-Src	breast:	n/a
6	chr11:65562214-65562264	SK-N-SH	brain:	n/a
7	chr11:65562214-65562264	T-47D	breast:	n/a
8	chr11:65562214-65562264	GM12878	blood:	n/a
9	chr11:65562214-65562264	HCPEpiC	choroid plexus:	n/a
10	chr11:65562246-65562296	HRE	kidney:	n/a
11	chr11:65562214-65562264	HAEpiC	amniotic membrane:	n/a
12	chr11:65562246-65562296	AG09319	gingival:	n/a
13	chr11:65562214-65562264	AG09319	gingival:	n/a
14	chr11:65562246-65562296	GM12878	blood:	n/a
15	chr11:65562214-65562264	HRCEpiC	kidney:	n/a
16	chr11:65562246-65562296	HCM	heart:	n/a
17	chr11:65562214-65562264	U87	brain:	n/a
18	chr11:65562214-65562264	ECC-1	luminal epithelium:	n/a
19	chr11:65562246-65562296	Hela-S3	cervix:	n/a
20	chr11:65562246-65562296	SAEC	small airway:	n/a
21	chr11:65562214-65562264	NT2-D1	testis:	n/a
22	chr11:65562246-65562296	HAEpiC	amniotic membrane:	n/a
23	chr11:65562246-65562296	BJ	skin:	n/a
24	chr11:65562214-65562264	HCM	heart:	n/a
25	chr11:65562246-65562296	GM12891	blood:	n/a
26	chr11:65562214-65562264	HEEpiC	esophagus:	n/a
27	chr11:65562214-65562264	HCT-116	colon:	n/a
28	chr11:65562214-65562264	AG04450	lung:	fetal
29	chr11:65562246-65562296	NHDF-neo	bronchial:	n/a
30	chr11:65562214-65562264	SAEC	small airway:	n/a
31	chr11:65562246-65562296	SKMC	muscle:	n/a
32	chr11:65562246-65562296	HEK293	kidney:	embryo
33	chr11:65562214-65562264	HCF	heart:	n/a
34	chr11:65562246-65562296	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:65562246-65562296	GM19239	blood:	n/a
36	chr11:65562214-65562264	AG09309	skin:	n/a
37	chr11:65562214-65562264	SK-N-MC	brain:	n/a
38	chr11:65562214-65562264	Caco-2	colon:	n/a
39	chr11:65562214-65562264	HNPCEpiC	eye:	n/a
40	chr11:65562246-65562296	HMEC	breast:	n/a
41	chr11:65562214-65562264	GM12891	blood:	n/a
42	chr11:65562214-65562264	Hela-S3	cervix:	n/a
43	chr11:65562246-65562296	NH-A	brain:	n/a
44	chr11:65562214-65562264	HEK293	kidney:	embryo
45	chr11:65562246-65562296	CMK	blood:	n/a
46	chr11:65562246-65562296	K562	blood:	n/a
47	chr11:65562246-65562296	HCPEpiC	choroid plexus:	n/a
48	chr11:65562246-65562296	ovcar-3	ovarian:	n/a
49	chr11:65562214-65562264	GM06990	blood:	n/a
50	chr11:65562246-65562296	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
2	chr11:65551696..65553777-chr11:65562013..65564216,2	K562	blood:
3	chr11:65429991..65432005-chr11:65562169..65564755,2	K562	blood:
4	chr11:65546923..65549109-chr11:65560977..65565317,4	K562	blood:
5	chr11:65557488..65562536-chr11:65655379..65657877,5	K562	blood:
6	chr11:65479281..65481159-chr11:65560377..65563374,2	K562	blood:
7	chr11:65560499..65563074-chr11:65564345..65566524,4	MCF-7	breast:

Variant related genes	Relation type
OVOL1-AS1	TF binding region
OVOL1-AS1	CpG island
ENSG00000172500	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1048924	1.00[EUR][1000 genomes]
rs1078458	1.00[EUR][1000 genomes]
rs10896054	1.00[EUR][1000 genomes]
rs1151504	1.00[EUR][1000 genomes]
rs1151520	1.00[EUR][1000 genomes]
rs1194099	1.00[EUR][1000 genomes]
rs12275175	1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12721573	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551115	1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs56663613	1.00[EUR][1000 genomes]
rs56990327	1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[EUR][1000 genomes]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[EUR][1000 genomes]
rs669300	1.00[EUR][1000 genomes]
rs7106444	1.00[EUR][1000 genomes]
rs7115662	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124858	1.00[EUR][1000 genomes]
rs72556578	1.00[EUR][1000 genomes]
rs73492420	1.00[EUR][1000 genomes]
rs73492424	1.00[EUR][1000 genomes]
rs73492432	1.00[EUR][1000 genomes]
rs7934992	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
7	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65557400-65563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:65558000-65564400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65558200-65562600	Genic enhancers	Fetal Intestine Small	intestine
4	chr11:65558200-65564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:65558200-65568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:65558400-65566200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:65558600-65562600	Genic enhancers	Fetal Intestine Large	intestine
8	chr11:65559200-65566000	Weak transcription	Small Intestine	intestine
9	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
10	chr11:65560400-65565600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:65560600-65564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:65560800-65564600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:65561000-65563600	Strong transcription	Placenta	Placenta
14	chr11:65561400-65562600	Genic enhancers	Esophagus	oesophagus
15	chr11:65561400-65563600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:65561400-65563800	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr11:65561600-65562600	Genic enhancers	Duodenum Mucosa	Duodenum
18	chr11:65561600-65564000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr11:65561800-65563000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:65561800-65563400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:65561800-65564200	Weak transcription	Stomach Mucosa	stomach
22	chr11:65561800-65564400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:65562000-65562400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:65562000-65562400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr11:65562000-65562800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:65562000-65563400	Strong transcription	Pancreas	Pancrea
27	chr11:65562000-65563800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:65562000-65564200	Strong transcription	Colonic Mucosa	Colon
29	chr11:65562000-65564400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:65562000-65565600	Weak transcription	HMEC	breast
31	chr11:65562200-65562600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:65562200-65562800	Strong transcription	Rectal Smooth Muscle	rectum
33	chr11:65562200-65563200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:65562200-65563400	Strong transcription	Gastric	stomach
35	chr11:65562200-65564400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:65562200-65566200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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