Variant report

Variant	rs564687
Chromosome Location	chr11:64127881-64127882
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr11:64127699-64127892	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:64127416-64128006	K562	blood:	n/a	n/a
3	PAX5	chr11:64127516-64127906	GM12878	blood:	n/a	n/a
4	MAX	chr11:64127471-64128058	GM12878	blood:	n/a	n/a
5	CTCF	chr11:64127550-64127882	GM12891	blood:	n/a	n/a
6	PAX5	chr11:64127581-64127907	GM12878	blood:	n/a	n/a
7	NRF1	chr11:64127573-64127897	GM12878	blood:	n/a	n/a
8	PAX5	chr11:64127539-64128032	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:64127511-64127951	GM12878	blood:	n/a	n/a
10	EP300	chr11:64127709-64128092	GM12878	blood:	n/a	n/a
11	ZEB1	chr11:64127158-64128339	GM12878	blood:	n/a	chr11:64127974-64127986
12	MTA3	chr11:64126109-64128842	GM12878	blood:	n/a	n/a
13	EP300	chr11:64127696-64128083	GM12878	blood:	n/a	n/a
14	EBF1	chr11:64127530-64128121	GM12878	blood:	n/a	n/a
15	ELF1	chr11:64126089-64128250	GM12878	blood:	n/a	chr11:64126629-64126641 chr11:64126608-64126617 chr11:64126617-64126630 chr11:64126595-64126607 chr11:64126585-64126597
16	POLR2A	chr11:64125369-64128440	HL-60	blood:	n/a	n/a
17	MXI1	chr11:64127083-64128018	GM12878	blood:	n/a	chr11:64127906-64127915
18	ELF1	chr11:64127486-64127932	GM12878	blood:	n/a	n/a
19	CTCF	chr11:64127531-64127916	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63972047..63977847-chr11:64122012..64128099,8	K562	blood:
2	chr11:64041009..64043331-chr11:64125161..64128159,2	MCF-7	breast:
3	chr11:64082853..64088243-chr11:64119014..64129028,17	MCF-7	breast:
4	chr11:64008123..64009652-chr11:64126400..64128645,2	MCF-7	breast:
5	chr11:64125259..64126829-chr11:64127521..64129918,2	MCF-7	breast:
6	chr11:64125330..64128537-chr11:64215213..64218115,3	MCF-7	breast:
7	chr11:64070986..64076286-chr11:64124810..64128616,7	K562	blood:
8	chr11:64119430..64124364-chr11:64124831..64128743,7	MCF-7	breast:
9	chr11:64126546..64128128-chr11:64543926..64545937,2	K562	blood:
10	chr11:64013360..64015283-chr11:64125680..64128243,2	MCF-7	breast:
11	chr11:64013219..64015249-chr11:64126039..64128658,2	K562	blood:
12	chr11:64080620..64083894-chr11:64124180..64128334,3	MCF-7	breast:
13	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
14	chr11:64069665..64072267-chr11:64127421..64129255,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS6KA4	TF binding region
ENSG00000173113	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000181908	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000173153	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1199175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1318165	0.83[AMR][1000 genomes]
rs477909	1.00[AMR][1000 genomes]
rs483515	1.00[AMR][1000 genomes]
rs484384	1.00[AMR][1000 genomes]
rs488760	0.83[AMR][1000 genomes]
rs494403	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs497595	0.85[AFR][1000 genomes]
rs499455	0.86[AFR][1000 genomes]
rs512372	0.83[AMR][1000 genomes]
rs513264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs523525	1.00[AMR][1000 genomes]
rs545916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550819	0.83[AMR][1000 genomes]
rs558105	0.83[AMR][1000 genomes]
rs558864	0.83[AMR][1000 genomes]
rs565221	0.83[AMR][1000 genomes]
rs566049	0.83[AMR][1000 genomes]
rs571379	0.83[AMR][1000 genomes]
rs590103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601845	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614047	0.83[AMR][1000 genomes]
rs632654	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs648220	1.00[AMR][1000 genomes]
rs649463	1.00[AMR][1000 genomes]
rs652611	0.83[AMR][1000 genomes]
rs676931	0.83[AMR][1000 genomes]
rs681797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941847	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
6	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
7	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
10	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
12	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
13	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
15	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
16	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv897690	chr11:64118422-64135298	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
19	nsv897691	chr11:64118422-64137875	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
20	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64125800-64128000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr11:64125800-64128600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:64125800-64128600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:64126000-64128200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr11:64126000-64128400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:64126200-64128000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:64126200-64128000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:64126200-64128000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:64126200-64128000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr11:64126200-64128000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:64126400-64128000	Active TSS	Brain Angular Gyrus	brain
12	chr11:64126800-64128000	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr11:64126800-64128000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:64126800-64128000	Flanking Active TSS	Colonic Mucosa	Colon
15	chr11:64126800-64128000	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr11:64126800-64128000	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr11:64126800-64128200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr11:64127000-64128000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:64127000-64128000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr11:64127000-64128000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:64127000-64128000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:64127000-64128000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr11:64127000-64128000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
24	chr11:64127000-64128000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:64127000-64128200	Flanking Active TSS	Fetal Brain Female	brain
26	chr11:64127000-64128400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr11:64127000-64128400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:64127000-64128400	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:64127000-64129600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:64127200-64128000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:64127200-64128000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr11:64127200-64128000	Flanking Active TSS	HMEC	breast
33	chr11:64127400-64128000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:64127400-64128000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:64127400-64128000	Enhancers	Fetal Lung	lung
36	chr11:64127400-64128200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:64127400-64128200	Enhancers	Liver	Liver
38	chr11:64127400-64128400	Weak transcription	HSMMtube	muscle
39	chr11:64127400-64128600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:64127400-64128800	Weak transcription	Aorta	Aorta
41	chr11:64127400-64129600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:64127400-64129600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:64127400-64131600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:64127400-64136000	Weak transcription	Fetal Kidney	kidney
45	chr11:64127400-64140000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:64127400-64144400	Weak transcription	Psoas Muscle	Psoas
47	chr11:64127600-64128000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:64127600-64128000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:64127600-64128000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:64127600-64128000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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