Variant report

Variant	rs12289280
Chromosome Location	chr11:65684745-65684746
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	POLR2A	chr11:65682505-65685837	HCT-116	colon:	n/a	n/a
2	MAZ	chr11:65684129-65687972	IMR90	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
3	POLR2A	chr11:65684371-65684830	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
5	CHD1	chr11:65684362-65687144	IMR90	lung:	n/a	chr11:65687119-65687129
6	POLR2A	chr11:65682124-65685845	K562	blood:	n/a	n/a
7	POLR2A	chr11:65682051-65685006	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:65682380-65686585	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:65683005-65684990	K562	blood:	n/a	n/a
11	POLR2A	chr11:65682054-65686599	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:65682270-65687707	K562	blood:	n/a	n/a
13	POLR2A	chr11:65682661-65686627	HCT-116	colon:	n/a	n/a
14	POLR2A	chr11:65681773-65687130	U87	brain:	n/a	n/a
15	SIN3AK20	chr11:65684708-65685488	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:65684390-65685117	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:65682254-65684912	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr11:65684084-65684827	K562	blood:	n/a	n/a
19	POLR2A	chr11:65677999-65686383	U87	brain:	n/a	n/a
20	POLR2A	chr11:65684258-65684839	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:65678005-65686377	U87	brain:	n/a	n/a
22	POLR2A	chr11:65682095-65686648	GM12892	blood:	n/a	n/a
23	MAX	chr11:65684605-65687730	HCT-116	colon:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
24	POLR2A	chr11:65682320-65687300	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:65684590-65685094	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:65684586-65685205	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:65682548-65686605	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65485702..65488169-chr11:65683105..65685418,2	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65684297..65686517-chr11:66083132..66085712,2	MCF-7	breast:
4	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
5	chr11:65682614..65684925-chr11:65768572..65770745,2	MCF-7	breast:
6	chr11:65683260..65685556-chr11:65700127..65702595,2	MCF-7	breast:
7	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
8	chr11:64509755..64511903-chr11:65684738..65686627,2	K562	blood:
9	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
10	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
11	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
ENSG00000172500	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172922	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11227337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227338	1.00[EUR][1000 genomes]
rs11227341	1.00[AMR][1000 genomes]
rs11825885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940700	1.00[EUR][1000 genomes]
rs7941052	1.00[EUR][1000 genomes]
rs9326361	1.00[EUR][1000 genomes]
rs9919533	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65679400-65685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65681600-65685400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:65681800-65684800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:65682000-65684800	Enhancers	Esophagus	oesophagus
5	chr11:65682000-65685200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:65682000-65685400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:65682200-65684800	Enhancers	Ovary	ovary
8	chr11:65682200-65684800	Enhancers	Psoas Muscle	Psoas
9	chr11:65682200-65684800	Enhancers	Right Ventricle	heart
10	chr11:65682200-65685000	Genic enhancers	Fetal Stomach	stomach
11	chr11:65682200-65685000	Enhancers	Pancreas	Pancrea
12	chr11:65682200-65685200	Enhancers	Left Ventricle	heart
13	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:65682400-65684800	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:65682400-65685200	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:65682400-65685200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:65682600-65684800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:65682600-65685000	Enhancers	Brain Hippocampus Middle	brain
19	chr11:65682600-65685400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:65682600-65685400	Enhancers	Brain Angular Gyrus	brain
21	chr11:65682600-65685400	Enhancers	Brain Substantia Nigra	brain
22	chr11:65682600-65685600	Enhancers	Fetal Heart	heart
23	chr11:65682600-65686000	Flanking Active TSS	Hela-S3	cervix
24	chr11:65682600-65686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:65682800-65684800	Enhancers	Brain Anterior Caudate	brain
26	chr11:65682800-65684800	Flanking Active TSS	A549	lung
27	chr11:65682800-65685200	Enhancers	Small Intestine	intestine
28	chr11:65682800-65685400	Enhancers	Primary B cells from cord blood	blood
29	chr11:65682800-65685400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:65682800-65686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:65682800-65686200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:65683200-65684800	Weak transcription	Aorta	Aorta
33	chr11:65683200-65685000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:65683400-65684800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr11:65683400-65684800	Genic enhancers	Brain Germinal Matrix	brain
36	chr11:65683400-65686000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:65683400-65686000	Flanking Active TSS	HUVEC	blood vessel
38	chr11:65683600-65684800	Enhancers	HepG2	liver
39	chr11:65683600-65685000	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr11:65683600-65685200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:65683600-65685200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:65683600-65685200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:65683600-65685200	Enhancers	K562	blood
44	chr11:65683600-65685400	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:65683600-65685400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:65683600-65685800	Transcr. at gene 5' and 3'	NHLF	lung
47	chr11:65683800-65685000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:65683800-65685200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:65683800-65685200	Genic enhancers	Thymus	Thymus
50	chr11:65683800-65685400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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