Variant report

Variant	rs73489916
Chromosome Location	chr11:75528136-75528137
allele	G/T
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	MXI1	chr11:75525324-75528512	GM12878	blood:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
2	POLR2A	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
3	TBL1XR1	chr11:75527645-75528233	GM12878	blood:	n/a	n/a
4	EBF1	chr11:75527602-75528388	GM12878	blood:	n/a	chr11:75528262-75528273
5	POLR2A	chr11:75525931-75528673	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:75525391-75528411	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:75527414-75528224	GM12891	blood:	n/a	n/a
8	MXI1	chr11:75524362-75528392	SK-N-SH	brain:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
9	EGR1	chr11:75528007-75528289	K562	blood:	n/a	n/a
10	PML	chr11:75525466-75528587	GM12878	blood:	n/a	chr11:75528343-75528351
11	POLR2A	chr11:75525281-75528491	GM12878	blood:	n/a	n/a
12	MYC	chr11:75527243-75528234	MCF10A-Er-Src	breast:	n/a	chr11:75527904-75527914 chr11:75527717-75527727
13	MTA3	chr11:75527148-75528219	GM12878	blood:	n/a	n/a
14	MXI1	chr11:75524701-75528291	IMR90	lung:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
15	RUNX3	chr11:75527613-75528415	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:75524235-75528279	HUVEC	blood vessel:	n/a	n/a
17	ZNF263	chr11:75527097-75528540	HEK293-T-REx	kidney:	n/a	n/a
18	POLR2A	chr11:75523862-75528580	GM12891	blood:	n/a	n/a
19	RELA	chr11:75525462-75528510	GM12891	blood:	n/a	chr11:75527126-75527135 chr11:75527126-75527135
20	POLR2A	chr11:75525272-75528355	GM12892	blood:	n/a	n/a
21	MYC	chr11:75527188-75528248	K562	blood:	n/a	chr11:75527904-75527914 chr11:75527717-75527727
22	MYC	chr11:75527286-75528342	K562	blood:	n/a	chr11:75527904-75527914 chr11:75527717-75527727
23	RELA	chr11:75526561-75528243	GM19099	blood:	n/a	chr11:75527126-75527135 chr11:75527126-75527135
24	MAX	chr11:75527376-75528230	NB4	blood:	n/a	chr11:75527904-75527914 chr11:75527717-75527727
25	NFIC	chr11:75525588-75528195	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:75525430-75528696	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:75525357-75528182	Raji	blood:	n/a	n/a
28	JUN	chr11:75524100-75528948	K562	blood:	n/a	chr11:75524807-75524815 chr11:75524808-75524819 chr11:75526209-75526218 chr11:75528353-75528362 chr11:75524810-75524817 chr11:75524306-75524318 chr11:75524807-75524814 chr11:75526420-75526429 chr11:75524806-75524815 chr11:75524805-75524817
29	IKZF1	chr11:75527604-75528506	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:75527698-75528154	K562	blood:	n/a	n/a
31	HCFC1	chr11:75524194-75528712	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr11:75527638-75528311	GM12878	blood:	n/a	chr11:75527904-75527914
33	UBTF	chr11:75525543-75528239	K562	blood:	n/a	n/a
34	RELA	chr11:75527690-75528343	GM18951	blood:	n/a	n/a
35	RUNX3	chr11:75527433-75528395	GM12878	blood:	n/a	n/a
36	WRNIP1	chr11:75527271-75528537	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:75527309-75528189	K562	blood:	n/a	n/a
38	POLR2A	chr11:75527255-75528388	GM12892	blood:	n/a	n/a
39	CHD1	chr11:75527672-75528564	GM12878	blood:	n/a	n/a
40	MAX	chr11:75527517-75528180	GM12878	blood:	n/a	chr11:75527904-75527914 chr11:75527717-75527727
41	CBX3	chr11:75527647-75528201	K562	blood:	n/a	n/a
42	MAX	chr11:75527529-75528350	K562	blood:	n/a	chr11:75527904-75527914 chr11:75527717-75527727
43	POLR2A	chr11:75525390-75528597	GM18505	blood:	n/a	n/a
44	BHLHE40	chr11:75527474-75528278	GM12878	blood:	n/a	n/a
45	MTA3	chr11:75525301-75528669	GM12878	blood:	n/a	n/a
46	ELK1	chr11:75527965-75528156	K562	blood:	n/a	n/a
47	BCLAF1	chr11:75527555-75528257	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75185137..75187494-chr11:75526962..75529134,2	K562	blood:
2	chr11:75526830..75528448-chr11:75885826..75888721,2	K562	blood:
3	chr11:75270417..75273210-chr11:75525682..75528337,2	MCF-7	breast:
4	chr11:75527717..75529229-chr11:75577673..75580461,2	MCF-7	breast:
5	chr11:75525852..75527769-chr11:75527858..75529905,2	K562	blood:
6	chr11:75525388..75527600-chr11:75527925..75530151,2	K562	blood:
7	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
8	chr11:75527688..75530896-chr11:75531829..75535250,5	K562	blood:
9	chr11:75525985..75528745-chr11:75547051..75549081,2	MCF-7	breast:
10	chr11:75501690..75503528-chr11:75525644..75528441,2	K562	blood:
11	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
12	chr11:75521603..75525061-chr11:75527871..75530189,3	K562	blood:
13	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	TF binding region
ENSG00000247867	Chromatin interaction
ENSG00000199362	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000062282	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57784548	1.00[AMR][1000 genomes]
rs58245876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58725839	1.00[AMR][1000 genomes]
rs59635776	1.00[AMR][1000 genomes]
rs60032678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60841430	1.00[AMR][1000 genomes]
rs7119779	1.00[AMR][1000 genomes]
rs73489913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489924	1.00[AMR][1000 genomes]
rs73489925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504534	1.00[AMR][1000 genomes]
rs73504548	1.00[AMR][1000 genomes]
rs73504568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504574	1.00[AMR][1000 genomes]
rs73504580	1.00[AMR][1000 genomes]
rs73504581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504584	1.00[AMR][1000 genomes]
rs73504586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504588	1.00[AMR][1000 genomes]
rs73504598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506512	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7927703	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75525400-75528400	Active TSS	Lung	lung
2	chr11:75525600-75529800	Active TSS	GM12878-XiMat	blood
3	chr11:75526400-75528400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:75526800-75528200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr11:75526800-75528200	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr11:75526800-75528400	Flanking Active TSS	Fetal Brain Male	brain
7	chr11:75526800-75528600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr11:75526800-75529000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:75527000-75528200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:75527000-75528200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:75527000-75528200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr11:75527000-75528200	Flanking Active TSS	Liver	Liver
13	chr11:75527000-75528200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:75527000-75528200	Flanking Active TSS	NH-A	brain
15	chr11:75527000-75528400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr11:75527000-75528400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:75527000-75528400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:75527000-75528400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:75527000-75528400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:75527000-75528400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:75527000-75528400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr11:75527000-75528600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:75527000-75528600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr11:75527000-75528600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:75527000-75528600	Flanking Active TSS	Dnd41	blood
26	chr11:75527000-75528600	Flanking Active TSS	Hela-S3	cervix
27	chr11:75527000-75528600	Flanking Active TSS	Osteobl	bone
28	chr11:75527200-75528200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:75527200-75528200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:75527200-75528200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:75527200-75528200	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:75527200-75528200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:75527200-75528200	Flanking Active TSS	A549	lung
34	chr11:75527200-75528200	Flanking Active TSS	HSMMtube	muscle
35	chr11:75527200-75528400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:75527200-75528400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:75527200-75528400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:75527200-75528400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr11:75527200-75528400	Flanking Active TSS	Fetal Kidney	kidney
40	chr11:75527200-75528400	Flanking Active TSS	NHEK	skin
41	chr11:75527200-75528600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:75527200-75528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:75527200-75528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:75527200-75528600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:75527200-75528600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:75527200-75528600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:75527200-75528600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:75527200-75528600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr11:75527200-75528600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:75527200-75528600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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