Variant report

Variant	rs73466006
Chromosome Location	chr11:46390068-46390069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:46389968-46390140	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:46389976-46390187	GM12878	blood:	n/a	n/a
3	CTCF	chr11:46390000-46390150	GM12868	blood:	n/a	n/a
4	CTCF	chr11:46389880-46390150	HAc	cerebellar:	n/a	n/a
5	CTCF	chr11:46390000-46390150	A549	lung:	n/a	n/a
6	CTCF	chr11:46390060-46390210	HPF	lung:	n/a	n/a
7	CTCF	chr11:46389920-46390070	HVMF	connective:	n/a	n/a
8	CTCF	chr11:46389800-46390090	WI-38	lung:	n/a	n/a
9	POLR2A	chr11:46390013-46390149	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:46389769-46390281	K562	blood:	n/a	n/a
11	CTCF	chr11:46390000-46390150	RPTEC	kidney:	n/a	n/a
12	POLR2A	chr11:46389924-46390282	K562	blood:	n/a	n/a
13	POLR2A	chr11:46388920-46390543	HL-60	blood:	n/a	n/a
14	CTCF	chr11:46389940-46390090	AG09319	gingival:	n/a	n/a
15	CTCF	chr11:46389980-46390130	BJ	skin:	n/a	n/a
16	CTCF	chr11:46389920-46390070	Caco-2	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
2	chr11:46384960..46386959-chr11:46389381..46391059,2	MCF-7	breast:

No data

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs33968054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34830450	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466016	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901998	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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
2	chr11:46383600-46392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
4	chr11:46384000-46390400	Enhancers	Fetal Heart	heart
5	chr11:46384200-46391800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr11:46384400-46391600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:46384600-46390200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:46384800-46395600	Weak transcription	Small Intestine	intestine
9	chr11:46385200-46391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:46385200-46393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
12	chr11:46385400-46401200	Strong transcription	Dnd41	blood
13	chr11:46385600-46391200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:46385800-46390800	Weak transcription	Fetal Kidney	kidney
15	chr11:46385800-46390800	Weak transcription	NH-A	brain
16	chr11:46386000-46390800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:46386000-46398200	Weak transcription	Primary B cells from cord blood	blood
18	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
19	chr11:46386200-46390200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:46386200-46390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:46386200-46390800	Weak transcription	HUVEC	blood vessel
22	chr11:46386200-46392000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:46386400-46395400	Weak transcription	Psoas Muscle	Psoas
24	chr11:46386600-46396000	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr11:46387200-46399200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:46387600-46390200	Genic enhancers	Placenta	Placenta
27	chr11:46387600-46396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:46387800-46391000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:46388000-46392200	Strong transcription	GM12878-XiMat	blood
30	chr11:46388400-46390200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:46388400-46390200	Genic enhancers	Fetal Stomach	stomach
32	chr11:46388400-46390400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:46388400-46393200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:46388600-46391800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:46388600-46396200	Genic enhancers	Fetal Muscle Leg	muscle
36	chr11:46388600-46400200	Strong transcription	Gastric	stomach
37	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:46389000-46390800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:46389000-46390800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:46389000-46391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:46389000-46391200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:46389000-46391200	Strong transcription	Lung	lung
43	chr11:46389000-46391600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:46389000-46399600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:46389000-46399600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
47	chr11:46389400-46390200	Genic enhancers	Brain Angular Gyrus	brain
48	chr11:46389400-46390200	Genic enhancers	HepG2	liver
49	chr11:46389400-46390800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:46389400-46391000	Strong transcription	K562	blood

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