Variant report

Variant	rs73496423
Chromosome Location	chr11:65682185-65682186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:65682080-65684051	A549	lung:	n/a	n/a
2	MTA3	chr11:65682181-65682543	GM12878	blood:	n/a	n/a
3	TCF12	chr11:65682048-65684218	A549	lung:	n/a	chr11:65684067-65684075
4	CEBPB	chr11:65681886-65682214	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
6	CEBPB	chr11:65682014-65682197	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:65682124-65685845	K562	blood:	n/a	n/a
8	POLR2A	chr11:65682051-65685006	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:65682164-65682194	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:65682054-65686599	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:65681773-65687130	U87	brain:	n/a	n/a
13	CEBPB	chr11:65681921-65682202	K562	blood:	n/a	n/a
14	MAX	chr11:65682036-65684689	A549	lung:	n/a	chr11:65683301-65683310
15	POLR2A	chr11:65677999-65686383	U87	brain:	n/a	n/a
16	FOS	chr11:65681981-65682273	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:65678005-65686377	U87	brain:	n/a	n/a
18	POLR2A	chr11:65682095-65686648	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:65682128-65684360	ProgFib	skin:	n/a	n/a
20	MAZ	chr11:65681779-65684035	IMR90	lung:	n/a	chr11:65683301-65683310
21	FOS	chr11:65681958-65682201	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65680519..65682375-chr11:65811649..65813835,2	K562	blood:
2	chr11:65185509..65187331-chr11:65681398..65683279,2	MCF-7	breast:
3	chr11:65650568..65652216-chr11:65681134..65682698,2	MCF-7	breast:
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	chr11:65680951..65683031-chr11:65728710..65730700,2	MCF-7	breast:
9	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
10	chr11:65663912..65665764-chr11:65680753..65683444,3	MCF-7	breast:
11	chr11:65681469..65683579-chr11:65785097..65787781,2	MCF-7	breast:
12	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:

No data

Variant related genes	Relation type
DRAP1	TF binding region
ENSG00000172500	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000038382	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000273226	Chromatin interaction
ENSG00000137154	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10791831	0.97[ASN][1000 genomes]
rs10896065	0.94[ASN][1000 genomes]
rs11227338	0.93[ASN][1000 genomes]
rs11542177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12099125	0.97[ASN][1000 genomes]
rs12099359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12576224	0.92[ASN][1000 genomes]
rs12576319	0.97[ASN][1000 genomes]
rs58192075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61515492	0.84[ASN][1000 genomes]
rs653955	0.97[ASN][1000 genomes]
rs67232706	0.81[ASN][1000 genomes]
rs67530871	0.81[ASN][1000 genomes]
rs73496412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73496424	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];0.97[ASN][1000 genomes]
rs7927841	0.86[ASN][1000 genomes]
rs7940700	0.94[ASN][1000 genomes]
rs7941052	0.97[ASN][1000 genomes]
rs9326357	0.81[ASN][1000 genomes]
rs9326362	0.92[ASN][1000 genomes]
rs9919533	0.94[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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65668000-65682600	Weak transcription	Aorta	Aorta
2	chr11:65676400-65683600	Enhancers	NHDF-Ad	bronchial
3	chr11:65676400-65683800	Weak transcription	Primary T cells from cord blood	blood
4	chr11:65677000-65682200	Weak transcription	Pancreas	Pancrea
5	chr11:65677000-65682400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:65677600-65682200	Enhancers	NHLF	lung
7	chr11:65677600-65682800	Enhancers	A549	lung
8	chr11:65677800-65684000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:65678000-65682800	Enhancers	HMEC	breast
10	chr11:65679400-65682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:65679400-65682400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:65679400-65682400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:65679400-65682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:65679400-65685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:65679600-65682200	Weak transcription	Psoas Muscle	Psoas
16	chr11:65679600-65682200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:65679600-65682400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:65679600-65682400	Weak transcription	Lung	lung
19	chr11:65679600-65682400	Weak transcription	Right Atrium	heart
20	chr11:65679600-65682400	Weak transcription	Spleen	Spleen
21	chr11:65679600-65682600	Weak transcription	Fetal Intestine Small	intestine
22	chr11:65679600-65682800	Weak transcription	Brain Germinal Matrix	brain
23	chr11:65679600-65682800	Enhancers	Osteobl	bone
24	chr11:65679600-65683200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:65679600-65683200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:65679600-65683400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:65679600-65684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:65679600-65684400	Enhancers	Placenta	Placenta
29	chr11:65679800-65682200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:65679800-65682200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:65679800-65682200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:65679800-65682200	Weak transcription	Right Ventricle	heart
33	chr11:65679800-65682200	Weak transcription	HSMMtube	muscle
34	chr11:65679800-65682400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:65679800-65682400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65679800-65682400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:65679800-65682400	Weak transcription	Colonic Mucosa	Colon
38	chr11:65679800-65682400	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:65679800-65682400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:65679800-65682600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:65679800-65682600	Weak transcription	Liver	Liver
42	chr11:65679800-65682600	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:65679800-65682600	Weak transcription	Fetal Heart	heart
44	chr11:65679800-65682600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:65679800-65682600	Enhancers	HSMM	muscle
46	chr11:65679800-65682800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:65680000-65682200	Weak transcription	Left Ventricle	heart
48	chr11:65680000-65682200	Weak transcription	Ovary	ovary
49	chr11:65680000-65682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:65680000-65682400	Weak transcription	Duodenum Mucosa	Duodenum

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