Variant report

Variant	rs12273896
Chromosome Location	chr11:17565187-17565188
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	TCF7L2	chr11:17565076-17565236	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17563988..17566643-chr11:17568666..17571231,2	MCF-7	breast:
2	chr11:17550003..17552043-chr11:17563166..17565257,2	K562	blood:

Variant related genes	Relation type
OTOG	TF binding region
ENSG00000188162	Chromatin interaction

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

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

rs_ID	r²[population]
rs12270598	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272861	0.88[AMR][1000 genomes];0.82[EUR][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	0.90[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17562000-17565200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17562400-17566200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:17563200-17565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:17563200-17566200	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:17563400-17565200	Enhancers	Pancreas	Pancrea
6	chr11:17563600-17566400	Active TSS	Duodenum Mucosa	Duodenum
7	chr11:17563800-17566400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:17564000-17565200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr11:17564000-17565400	Active TSS	Colonic Mucosa	Colon
10	chr11:17564000-17566000	Active TSS	Fetal Kidney	kidney
11	chr11:17564000-17566200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:17564200-17565200	Active TSS	Stomach Mucosa	stomach
13	chr11:17564200-17565400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:17564200-17565400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:17564200-17566000	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr11:17564400-17566000	Active TSS	Gastric	stomach
17	chr11:17564600-17565200	Active TSS	Hela-S3	cervix
18	chr11:17564600-17565400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr11:17564800-17565600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr11:17564800-17565800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:17564800-17565800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
22	chr11:17564800-17566200	Bivalent/Poised TSS	Small Intestine	intestine
23	chr11:17565000-17565200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:17565000-17565400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr11:17565000-17566000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:17565000-17566200	Active TSS	A549	lung
27	chr11:17565000-17566400	Active TSS	Fetal Intestine Small	intestine

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