Variant report

Variant	rs138886412
Chromosome Location	chr11:65683607-65683608
allele	A/C
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	CEBPB	chr11:65683090-65683897	A549	lung:	n/a	n/a
2	BCL3	chr11:65682080-65684051	A549	lung:	n/a	n/a
3	POLR2A	chr11:65682505-65685837	HCT-116	colon:	n/a	n/a
4	MTA3	chr11:65683561-65684171	GM12878	blood:	n/a	n/a
5	REST	chr11:65682809-65683752	A549	lung:	n/a	n/a
6	PBX3	chr11:65682526-65684065	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:65682313-65684298	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr11:65683277-65683653	IMR90	lung:	n/a	n/a
9	MAX	chr11:65683045-65683721	SK-N-SH	brain:	n/a	chr11:65683301-65683310
10	FOSL2	chr11:65682798-65684134	A549	lung:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683382-65683393 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
11	RCOR1	chr11:65683122-65683628	Hela-S3	cervix:	n/a	n/a
12	ATF3	chr11:65683091-65683648	A549	lung:	n/a	chr11:65683544-65683564
13	SIN3AK20	chr11:65683560-65684160	PANC-1	pancreas:	n/a	n/a
14	MAX	chr11:65682981-65683845	A549	lung:	n/a	chr11:65683301-65683310
15	POLR2A	chr11:65682809-65683648	A549	lung:	n/a	n/a
16	POLR2A	chr11:65682807-65683692	A549	lung:	n/a	n/a
17	JUND	chr11:65682518-65683871	SK-N-SH	brain:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683299-65683310 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
18	ZBTB33	chr11:65683035-65683649	A549	lung:	n/a	n/a
19	FOSL2	chr11:65683039-65683644	MCF-7	breast:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683382-65683393 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
20	JUN	chr11:65683189-65683814	K562	blood:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
21	TCF12	chr11:65682048-65684218	A549	lung:	n/a	chr11:65684067-65684075
22	TEAD4	chr11:65683091-65683763	A549	lung:	n/a	n/a
23	TCF12	chr11:65682444-65683984	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:65683268-65684066	K562	blood:	n/a	n/a
25	SIX5	chr11:65682429-65683848	A549	lung:	n/a	n/a
26	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
27	PRDM1	chr11:65683603-65683727	Hela-S3	cervix:	n/a	chr11:65683692-65683707
28	BCL3	chr11:65682784-65683972	A549	lung:	n/a	n/a
29	CHD2	chr11:65683113-65683698	Hela-S3	cervix:	n/a	n/a
30	BHLHE40	chr11:65683200-65683765	A549	lung:	n/a	n/a
31	SMARCC1	chr11:65682515-65683862	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr11:65683130-65683790	A549	lung:	n/a	n/a
33	NFIC	chr11:65683021-65683716	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr11:65683488-65684280	GM12891	blood:	n/a	n/a
35	NFIC	chr11:65682861-65684018	SK-N-SH	brain:	n/a	n/a
36	TCF12	chr11:65682954-65683719	ECC-1	luminal epithelium:	n/a	n/a
37	NR3C1	chr11:65683123-65683624	A549	lung:	n/a	chr11:65683384-65683393
38	FOSL2	chr11:65683082-65683628	MCF-7	breast:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683382-65683393 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
39	POLR2A	chr11:65683603-65683967	A549	lung:	n/a	n/a
40	NFIC	chr11:65682994-65683795	ECC-1	luminal epithelium:	n/a	n/a
41	TCF12	chr11:65683026-65683800	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr11:65682988-65683666	A549	lung:	n/a	n/a
43	TEAD4	chr11:65682853-65683776	SK-N-SH	brain:	n/a	n/a
44	RXRA	chr11:65682660-65683804	SK-N-SH	brain:	n/a	chr11:65682841-65682857
45	FOSL2	chr11:65683143-65683650	HepG2	liver:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683382-65683393 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
46	JUN	chr11:65682611-65683831	K562	blood:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
47	POLR2A	chr11:65682608-65684020	GM12891	blood:	n/a	n/a
48	JUND	chr11:65682764-65683858	SK-N-SH	brain:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683299-65683310 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
49	POLR2A	chr11:65683462-65683743	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:65682124-65685845	K562	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	chr11:65485621..65487776-chr11:65682434..65684591,2	K562	blood:
4	chr11:65682062..65683635-chr11:65735954..65737652,2	MCF-7	breast:
5	chr11:65681117..65683931-chr9:19374587..19377457,2	K562	blood:
6	chr11:65682118..65684018-chr11:65775122..65778045,2	MCF-7	breast:
7	chr11:65682614..65684925-chr11:65768572..65770745,2	MCF-7	breast:
8	chr11:65683260..65685556-chr11:65700127..65702595,2	MCF-7	breast:
9	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
10	chr11:65652289..65653954-chr11:65682790..65684539,2	MCF-7	breast:
11	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
12	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000273226	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3442487	chr11:65683409-65683711	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
11	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65676400-65683800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:65677800-65684000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:65679400-65685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:65679600-65684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:65679600-65684400	Enhancers	Placenta	Placenta
6	chr11:65680000-65684400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65680000-65684600	Weak transcription	Fetal Lung	lung
8	chr11:65681600-65683800	Weak transcription	GM12878-XiMat	blood
9	chr11:65681600-65685400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:65681800-65684800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65682000-65683800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:65682000-65684800	Enhancers	Esophagus	oesophagus
13	chr11:65682000-65685200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:65682000-65685400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:65682200-65684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:65682200-65684000	Enhancers	Fetal Muscle Trunk	muscle
17	chr11:65682200-65684200	Flanking Active TSS	HSMMtube	muscle
18	chr11:65682200-65684200	Flanking Active TSS	NHEK	skin
19	chr11:65682200-65684400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:65682200-65684400	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:65682200-65684400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:65682200-65684800	Enhancers	Ovary	ovary
23	chr11:65682200-65684800	Enhancers	Psoas Muscle	Psoas
24	chr11:65682200-65684800	Enhancers	Right Ventricle	heart
25	chr11:65682200-65685000	Genic enhancers	Fetal Stomach	stomach
26	chr11:65682200-65685000	Enhancers	Pancreas	Pancrea
27	chr11:65682200-65685200	Enhancers	Left Ventricle	heart
28	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:65682400-65684000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr11:65682400-65684200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:65682400-65684200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:65682400-65684200	Enhancers	Fetal Muscle Leg	muscle
33	chr11:65682400-65684200	Enhancers	Right Atrium	heart
34	chr11:65682400-65684400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:65682400-65684400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:65682400-65684400	Enhancers	Spleen	Spleen
37	chr11:65682400-65684600	Enhancers	Lung	lung
38	chr11:65682400-65684800	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:65682400-65685200	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:65682400-65685200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:65682600-65683800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:65682600-65683800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:65682600-65683800	Strong transcription	Thymus	Thymus
44	chr11:65682600-65684000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:65682600-65684200	Strong transcription	Fetal Intestine Small	intestine
46	chr11:65682600-65684200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr11:65682600-65684400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:65682600-65684400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:65682600-65684800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:65682600-65685000	Enhancers	Brain Hippocampus Middle	brain

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