Variant report

Variant	rs12292585
Chromosome Location	chr11:65561046-65561047
allele	C/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	NFIC	chr11:65560409-65561561	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr11:65560584-65561517	ECC-1	luminal epithelium:	n/a	n/a
3	HDAC2	chr11:65560518-65561127	MCF-7	breast:	n/a	n/a
4	CEBPB	chr11:65560586-65561089	MCF-7	breast:	n/a	n/a
5	SP1	chr11:65558846-65561180	HCT-116	colon:	n/a	chr11:65560997-65561011 chr11:65560729-65560739 chr11:65561004-65561018 chr11:65559344-65559358 chr11:65559950-65559964
6	ZBTB7A	chr11:65560576-65561694	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr11:65560368-65561709	ECC-1	luminal epithelium:	n/a	chr11:65561175-65561183 chr11:65560936-65560946
8	SIN3AK20	chr11:65558870-65561268	MCF-7	breast:	n/a	n/a
9	MAX	chr11:65560641-65561145	MCF-7	breast:	n/a	chr11:65560831-65560840
10	EP300	chr11:65560636-65561525	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr11:65560410-65561683	ECC-1	luminal epithelium:	n/a	chr11:65560602-65560612
12	TEAD4	chr11:65560582-65561581	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr11:65560531-65561074	MCF-7	breast:	n/a	n/a
14	MAX	chr11:65560504-65561357	MCF-7	breast:	n/a	chr11:65560831-65560840
15	NFIC	chr11:65560468-65561540	ECC-1	luminal epithelium:	n/a	n/a
16	EGR1	chr11:65559733-65561237	HCT-116	colon:	n/a	chr11:65560226-65560239 chr11:65560225-65560240 chr11:65560996-65561009
17	MAX	chr11:65560521-65561595	ECC-1	luminal epithelium:	n/a	chr11:65560831-65560840
18	SIN3AK20	chr11:65560530-65561181	MCF-7	breast:	n/a	n/a
19	TEAD4	chr11:65560647-65561548	ECC-1	luminal epithelium:	n/a	n/a
20	NR2F2	chr11:65560564-65561184	MCF-7	breast:	n/a	n/a
21	MAX	chr11:65560524-65561060	ECC-1	luminal epithelium:	n/a	chr11:65560831-65560840
22	HDAC2	chr11:65560515-65561131	MCF-7	breast:	n/a	n/a
23	CEBPB	chr11:65560547-65561108	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr11:65560393-65561596	ECC-1	luminal epithelium:	n/a	chr11:65561175-65561183 chr11:65560936-65560946

No.	Distal block	Cell Line	Cell type
1	chr11:65559464..65561142-chr11:65583061..65585771,2	MCF-7	breast:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65556556..65561389-chr11:65623769..65628916,7	MCF-7	breast:
4	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
5	chr11:65558660..65561085-chr11:65567276..65569327,2	K562	blood:
6	chr11:65552279..65555050-chr11:65558664..65561977,4	K562	blood:
7	chr11:65546923..65549109-chr11:65560977..65565317,4	K562	blood:
8	chr11:65557488..65562536-chr11:65655379..65657877,5	K562	blood:
9	chr11:65479281..65481159-chr11:65560377..65563374,2	K562	blood:
10	chr11:65560499..65563074-chr11:65564345..65566524,4	MCF-7	breast:
11	chr11:65547412..65548155-chr11:65560456..65561079,2	K562	blood:

Variant related genes	Relation type
OVOL1	TF binding region
OVOL1-AS1	TF binding region
ENSG00000172500	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12273159	1.00[EUR][1000 genomes]
rs12285373	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65555800-65562000	Enhancers	HMEC	breast
2	chr11:65556000-65562000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:65556200-65561600	Enhancers	Pancreas	Pancrea
4	chr11:65556400-65561600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:65556400-65561800	Enhancers	Stomach Mucosa	stomach
6	chr11:65557400-65563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:65557800-65561200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:65557800-65561600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:65558000-65562000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:65558000-65564400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65558200-65561800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:65558200-65562600	Genic enhancers	Fetal Intestine Small	intestine
13	chr11:65558200-65564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:65558200-65568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:65558400-65561200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:65558400-65561800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:65558400-65566200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:65558600-65562600	Genic enhancers	Fetal Intestine Large	intestine
19	chr11:65559000-65562200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:65559200-65561600	Enhancers	Gastric	stomach
21	chr11:65559200-65566000	Weak transcription	Small Intestine	intestine
22	chr11:65559600-65561200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:65559600-65561400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
25	chr11:65560000-65561200	Active TSS	Esophagus	oesophagus
26	chr11:65560400-65565600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:65560600-65561200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:65560600-65561600	Enhancers	NHEK	skin
29	chr11:65560600-65564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:65560800-65561200	Enhancers	Hela-S3	cervix
31	chr11:65560800-65561600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:65560800-65564600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:65561000-65561200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:65561000-65561200	Flanking Active TSS	Colonic Mucosa	Colon
35	chr11:65561000-65561200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:65561000-65561200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:65561000-65561600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr11:65561000-65563600	Strong transcription	Placenta	Placenta

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