Variant report

Variant	rs72926898
Chromosome Location	chr11:65724437-65724438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65724100-65724745	GM12892	blood:	n/a	n/a
2	ELF1	chr11:65724192-65724701	GM12878	blood:	n/a	n/a
3	TAF1	chr11:65724187-65724709	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65724372-65724647	GM19193	blood:	n/a	n/a
5	BCLAF1	chr11:65724192-65724656	GM12878	blood:	n/a	n/a
6	TBP	chr11:65724324-65724570	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:65724125-65724660	GM12878	blood:	n/a	n/a
8	MTA3	chr11:65724051-65724788	GM12878	blood:	n/a	n/a
9	YY1	chr11:65724292-65724597	GM12892	blood:	n/a	n/a
10	BCLAF1	chr11:65724115-65724502	GM12878	blood:	n/a	n/a
11	POU2F2	chr11:65724184-65724670	GM12878	blood:	n/a	n/a
12	EP300	chr11:65724400-65724574	GM12878	blood:	n/a	n/a
13	TCF12	chr11:65724126-65724452	GM12878	blood:	n/a	n/a
14	IKZF1	chr11:65724200-65724573	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:65724219-65724639	GM12892	blood:	n/a	n/a
16	RUNX3	chr11:65724172-65724644	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:65724272-65724537	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:65724200-65724675	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:65724253-65724706	GM12878	blood:	n/a	n/a
20	HNF4A	chr11:65724201-65724446	HepG2	liver:	n/a	n/a
21	FOXM1	chr11:65724182-65724626	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:65724181-65724698	GM12878	blood:	n/a	n/a
23	NFIC	chr11:65724073-65724662	GM12878	blood:	n/a	n/a
24	SP1	chr11:65724240-65724682	GM12878	blood:	n/a	n/a
25	YY1	chr11:65724286-65724685	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:65724009-65724812	GM12892	blood:	n/a	n/a
27	YY1	chr11:65724290-65724651	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:65724177-65724576	HepG2	liver:	n/a	n/a
29	PBX3	chr11:65724397-65724699	GM12878	blood:	n/a	n/a
30	SPI1	chr11:65724130-65724776	GM12878	blood:	n/a	n/a
31	SPI1	chr11:65724326-65724770	HL-60	blood:	n/a	n/a
32	NFYB	chr11:65724423-65724681	GM12878	blood:	n/a	n/a
33	TCF3	chr11:65724106-65724599	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65724163-65724678	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:65724277-65724647	GM19099	blood:	n/a	n/a
36	POLR2A	chr11:65724087-65724776	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:65724118-65724701	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:65724100-65724483	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:65724308-65724613	GM12878	blood:	n/a	n/a
40	SPI1	chr11:65724135-65724765	GM12891	blood:	n/a	n/a
41	TBL1XR1	chr11:65724379-65724596	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:65724220-65724684	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:65724298-65724633	GM18505	blood:	n/a	n/a
44	TCF12	chr11:65724175-65724493	GM12878	blood:	n/a	n/a
45	PML	chr11:65724088-65724687	GM12878	blood:	n/a	n/a
46	TAF1	chr11:65724219-65724483	GM12878	blood:	n/a	n/a
47	SPI1	chr11:65724129-65724709	GM12891	blood:	n/a	n/a
48	SPI1	chr11:65724227-65724921	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:65724210-65724717	GM12892	blood:	n/a	n/a
50	POLR2A	chr11:65724289-65724635	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65715344..65718817-chr11:65724014..65725957,3	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65723943..65726098-chr11:65726720..65729599,3	MCF-7	breast:
4	chr11:65712713..65714464-chr11:65724212..65726864,2	MCF-7	breast:
5	chr11:65708763..65711558-chr11:65724262..65726531,2	MCF-7	breast:
6	chr11:65685136..65687826-chr11:65723810..65725529,2	MCF-7	breast:

No data

Variant related genes	Relation type
SART1	TF binding region
ENSG00000175573	Chromatin interaction
ENSG00000175513	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175550	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11545221	0.85[EUR][1000 genomes]
rs12575004	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs66602960	0.90[EUR][1000 genomes]
rs72926858	0.90[EUR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72928851	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928860	0.85[EUR][1000 genomes]
rs72928868	1.00[EUR][1000 genomes]
rs72928879	0.85[EUR][1000 genomes]
rs72928892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928895	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930912	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930984	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73496466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
7	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv983036	chr11:65721564-65725846	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65709200-65726000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:65714000-65728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65714400-65728400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:65715400-65726000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:65715400-65726200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:65715400-65728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65720200-65728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:65721400-65726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:65722800-65728200	Weak transcription	NHEK	skin
10	chr11:65722800-65728400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:65723800-65725000	Enhancers	Stomach Mucosa	stomach
12	chr11:65723800-65725200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:65723800-65725400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:65724000-65724600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr11:65724000-65724600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:65724000-65724800	Enhancers	Hela-S3	cervix
17	chr11:65724000-65725400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:65724000-65725400	Enhancers	HepG2	liver
19	chr11:65724000-65725800	Enhancers	Primary T cells from cord blood	blood
20	chr11:65724000-65726000	Enhancers	Primary B cells from cord blood	blood
21	chr11:65724000-65726200	Enhancers	Fetal Thymus	thymus
22	chr11:65724200-65724600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr11:65724200-65724600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:65724200-65724600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:65724200-65724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:65724200-65724600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:65724200-65724600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:65724200-65724800	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr11:65724200-65724800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:65724200-65725000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr11:65724200-65725000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr11:65724200-65725200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:65724200-65725200	Enhancers	Thymus	Thymus
34	chr11:65724400-65724600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:65724400-65724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65724400-65724600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:65724400-65724600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:65724400-65724600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:65724400-65724800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:65724400-65724800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:65724400-65724800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:65724400-65724800	Enhancers	Dnd41	blood
43	chr11:65724400-65725000	Flanking Active TSS	GM12878-XiMat	blood

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