Variant report

Variant	rs73496424
Chromosome Location	chr11:65683162-65683163
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	REST	chr11:65682809-65683752	A549	lung:	n/a	n/a
5	FOSL1	chr11:65683125-65683507	K562	blood:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683383-65683394 chr11:65683301-65683309 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
6	PBX3	chr11:65682526-65684065	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:65682807-65683187	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:65682313-65684298	SK-N-SH	brain:	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	MTA3	chr11:65682901-65683433	GM12878	blood:	n/a	n/a
12	RCOR1	chr11:65683122-65683628	Hela-S3	cervix:	n/a	n/a
13	ATF3	chr11:65683091-65683648	A549	lung:	n/a	chr11:65683544-65683564
14	JUN	chr11:65683146-65683595	Hela-S3	cervix:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
15	MAZ	chr11:65683138-65683344	K562	blood:	n/a	chr11:65683301-65683310
16	MAX	chr11:65682981-65683845	A549	lung:	n/a	chr11:65683301-65683310
17	POLR2A	chr11:65682809-65683648	A549	lung:	n/a	n/a
18	POLR2A	chr11:65682807-65683692	A549	lung:	n/a	n/a
19	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
20	ZBTB33	chr11:65683035-65683649	A549	lung:	n/a	n/a
21	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
22	TCF12	chr11:65682048-65684218	A549	lung:	n/a	chr11:65684067-65684075
23	TEAD4	chr11:65683091-65683763	A549	lung:	n/a	n/a
24	TCF12	chr11:65682444-65683984	SK-N-SH	brain:	n/a	n/a
25	MAFK	chr11:65683148-65683495	K562	blood:	n/a	chr11:65683383-65683393 chr11:65683301-65683311
26	MAFK	chr11:65683130-65683508	IMR90	lung:	n/a	chr11:65683383-65683393 chr11:65683301-65683311
27	BACH1	chr11:65683118-65683486	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIX5	chr11:65682429-65683848	A549	lung:	n/a	n/a
29	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
30	REST	chr11:65683139-65683529	SK-N-SH	brain:	n/a	n/a
31	BCL3	chr11:65682784-65683972	A549	lung:	n/a	n/a
32	CHD2	chr11:65683113-65683698	Hela-S3	cervix:	n/a	n/a
33	SMARCC1	chr11:65682515-65683862	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr11:65683073-65683473	PANC-1	pancreas:	n/a	n/a
35	SIN3AK20	chr11:65683130-65683790	A549	lung:	n/a	n/a
36	NFIC	chr11:65683021-65683716	SK-N-SH	brain:	n/a	n/a
37	NFIC	chr11:65682861-65684018	SK-N-SH	brain:	n/a	n/a
38	TCF12	chr11:65682954-65683719	ECC-1	luminal epithelium:	n/a	n/a
39	NR3C1	chr11:65683123-65683624	A549	lung:	n/a	chr11:65683384-65683393
40	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
41	MAX	chr11:65683154-65683567	NB4	blood:	n/a	chr11:65683301-65683310
42	NR3C1	chr11:65682998-65683590	A549	lung:	n/a	chr11:65683384-65683393
43	NFIC	chr11:65682994-65683795	ECC-1	luminal epithelium:	n/a	n/a
44	JUND	chr11:65683133-65683557	HepG2	liver:	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
45	TCF12	chr11:65683026-65683800	ECC-1	luminal epithelium:	n/a	n/a
46	JUND	chr11:65683098-65683578	Hela-S3	cervix:	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
47	CREB1	chr11:65682988-65683666	A549	lung:	n/a	n/a
48	TEAD4	chr11:65682853-65683776	SK-N-SH	brain:	n/a	n/a
49	RXRA	chr11:65682660-65683804	SK-N-SH	brain:	n/a	chr11:65682841-65682857
50	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

No.	Distal block	Cell Line	Cell type
1	chr11:65485702..65488169-chr11:65683105..65685418,2	MCF-7	breast:
2	chr11:65185509..65187331-chr11:65681398..65683279,2	MCF-7	breast:
3	chr11:65485621..65487776-chr11:65682434..65684591,2	K562	blood:
4	chr11:65681239..65683225-chr5:14143483..14145536,2	MCF-7	breast:
5	chr11:65682062..65683635-chr11:65735954..65737652,2	MCF-7	breast:
6	chr11:65681117..65683931-chr9:19374587..19377457,2	K562	blood:
7	chr11:65682118..65684018-chr11:65775122..65778045,2	MCF-7	breast:
8	chr11:65682614..65684925-chr11:65768572..65770745,2	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	chr11:65663912..65665764-chr11:65680753..65683444,3	MCF-7	breast:
13	chr11:65681469..65683579-chr11:65785097..65787781,2	MCF-7	breast:
14	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000273226	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10791831	1.00[ASN][1000 genomes]
rs10896065	0.97[ASN][1000 genomes]
rs11227338	0.96[ASN][1000 genomes]
rs11542177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12099125	1.00[ASN][1000 genomes]
rs12099359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12575514	0.81[ASN][1000 genomes]
rs12576224	0.94[ASN][1000 genomes]
rs12576319	1.00[ASN][1000 genomes]
rs12577625	0.81[ASN][1000 genomes]
rs28372938	0.81[ASN][1000 genomes]
rs58192075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58905199	0.81[ASN][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
rs653955	1.00[ASN][1000 genomes]
rs67232706	0.83[ASN][1000 genomes]
rs67530871	0.83[ASN][1000 genomes]
rs72928828	0.81[ASN][1000 genomes]
rs72928830	0.81[ASN][1000 genomes]
rs73496412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73496435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7927841	0.89[ASN][1000 genomes]
rs7940700	0.97[ASN][1000 genomes]
rs7941052	0.94[ASN][1000 genomes]
rs9326357	0.84[ASN][1000 genomes]
rs9326362	0.94[ASN][1000 genomes]
rs9919533	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65676400-65683600	Enhancers	NHDF-Ad	bronchial
2	chr11:65676400-65683800	Weak transcription	Primary T cells from cord blood	blood
3	chr11:65677800-65684000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:65679400-65685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:65679600-65683200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:65679600-65683200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:65679600-65683400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:65679600-65684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:65679600-65684400	Enhancers	Placenta	Placenta
10	chr11:65680000-65684400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:65680000-65684600	Weak transcription	Fetal Lung	lung
12	chr11:65680400-65683400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:65681000-65683400	Weak transcription	Fetal Thymus	thymus
14	chr11:65681600-65683800	Weak transcription	GM12878-XiMat	blood
15	chr11:65681600-65685400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:65681800-65684800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:65682000-65683400	Enhancers	HUVEC	blood vessel
18	chr11:65682000-65683400	Enhancers	NH-A	brain
19	chr11:65682000-65683800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:65682000-65684800	Enhancers	Esophagus	oesophagus
21	chr11:65682000-65685200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:65682000-65685400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:65682200-65683200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:65682200-65683200	Enhancers	Gastric	stomach
25	chr11:65682200-65683600	Genic enhancers	NHLF	lung
26	chr11:65682200-65684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:65682200-65684000	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:65682200-65684200	Flanking Active TSS	HSMMtube	muscle
29	chr11:65682200-65684200	Flanking Active TSS	NHEK	skin
30	chr11:65682200-65684400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65682200-65684400	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:65682200-65684400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:65682200-65684800	Enhancers	Ovary	ovary
34	chr11:65682200-65684800	Enhancers	Psoas Muscle	Psoas
35	chr11:65682200-65684800	Enhancers	Right Ventricle	heart
36	chr11:65682200-65685000	Genic enhancers	Fetal Stomach	stomach
37	chr11:65682200-65685000	Enhancers	Pancreas	Pancrea
38	chr11:65682200-65685200	Enhancers	Left Ventricle	heart
39	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:65682400-65683200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr11:65682400-65683200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr11:65682400-65683400	Enhancers	Fetal Brain Female	brain
43	chr11:65682400-65683600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:65682400-65683600	Enhancers	Colonic Mucosa	Colon
45	chr11:65682400-65684000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:65682400-65684200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:65682400-65684200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:65682400-65684200	Enhancers	Fetal Muscle Leg	muscle
49	chr11:65682400-65684200	Enhancers	Right Atrium	heart
50	chr11:65682400-65684400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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