Variant report

Variant	rs12270598
Chromosome Location	chr11:17563936-17563937
allele	A/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	YY1	chr11:17563884-17564178	HepG2	liver:	n/a	chr11:17564004-17564018
2	HNF4A	chr11:17563760-17564141	HepG2	liver:	n/a	chr11:17563965-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563972-17563980 chr11:17563966-17563978 chr11:17563964-17563979 chr11:17563965-17563980 chr11:17563971-17563979 chr11:17563965-17563980 chr11:17563965-17563980
3	HNF4G	chr11:17563787-17564135	HepG2	liver:	n/a	chr11:17563965-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563963-17563978 chr11:17563972-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563971-17563979 chr11:17563965-17563980 chr11:17563965-17563980
4	ELF1	chr11:17563738-17564103	HepG2	liver:	n/a	n/a
5	HDAC2	chr11:17563850-17564136	HepG2	liver:	n/a	chr11:17563971-17563979
6	SP1	chr11:17563755-17564223	A549	lung:	n/a	n/a
7	MAX	chr11:17563713-17564301	HepG2	liver:	n/a	chr11:17563994-17564003
8	HNF4A	chr11:17563815-17564138	HepG2	liver:	n/a	chr11:17563965-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563972-17563980 chr11:17563966-17563978 chr11:17563964-17563979 chr11:17563965-17563980 chr11:17563971-17563979 chr11:17563965-17563980 chr11:17563965-17563980
9	HNF4A	chr11:17563768-17564189	HepG2	liver:	n/a	chr11:17563965-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563972-17563980 chr11:17563966-17563978 chr11:17563964-17563979 chr11:17563965-17563980 chr11:17563971-17563979 chr11:17563965-17563980 chr11:17563965-17563980
10	MAX	chr11:17563882-17564144	HepG2	liver:	n/a	chr11:17563994-17564003
11	YY1	chr11:17563817-17564055	HepG2	liver:	n/a	chr11:17564004-17564018
12	MYC	chr11:17563899-17564052	HepG2	liver:	n/a	chr11:17563994-17564003
13	HNF4G	chr11:17563693-17564212	HepG2	liver:	n/a	chr11:17563965-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563963-17563978 chr11:17563972-17563980 chr11:17563966-17563978 chr11:17563965-17563980 chr11:17563971-17563979 chr11:17563965-17563980 chr11:17563965-17563980

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17550003..17552043-chr11:17563166..17565257,2	K562	blood:

Variant related genes	Relation type
OTOG	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12272861	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12273896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275068	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2355021	0.85[EUR][1000 genomes]
rs41282940	0.83[AMR][1000 genomes]
rs7112757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870321	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72870323	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72870330	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs733126	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs878545	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs886817	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv7693	chr11:17556788-17601771	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv553586	chr11:17559018-17599093	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17562000-17564000	Enhancers	Stomach Mucosa	stomach
2	chr11:17562000-17565200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:17562200-17564400	Weak transcription	Gastric	stomach
4	chr11:17562400-17564400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:17562400-17566200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:17562600-17565000	Enhancers	A549	lung
7	chr11:17563000-17564000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:17563200-17564400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:17563200-17565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:17563200-17566200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:17563400-17564600	Enhancers	Hela-S3	cervix
12	chr11:17563400-17565200	Enhancers	Pancreas	Pancrea
13	chr11:17563600-17564200	Active TSS	Fetal Intestine Small	intestine
14	chr11:17563600-17565000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:17563600-17566400	Active TSS	Duodenum Mucosa	Duodenum
16	chr11:17563800-17564000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:17563800-17564000	Weak transcription	Colonic Mucosa	Colon
18	chr11:17563800-17564000	Enhancers	HepG2	liver
19	chr11:17563800-17564200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:17563800-17564200	Bivalent Enhancer	Brain Anterior Caudate	brain
21	chr11:17563800-17564800	Active TSS	Fetal Intestine Large	intestine
22	chr11:17563800-17566400	Active TSS	Rectal Mucosa Donor 31	rectum

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