Variant report

Variant	rs33968054
Chromosome Location	chr11:46395998-46395999
allele	C/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	POLR2A	chr11:46395939-46396206	K562	blood:	n/a	n/a
2	POLR2A	chr11:46395311-46396394	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46367411..46370383-chr11:46395468..46399934,4	K562	blood:
2	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:

Variant related genes	Relation type
MIR4688	TF binding region
DGKZ	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34830450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4367921	0.93[AFR][1000 genomes]
rs73466006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901995	1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901998	0.82[AFR][1000 genomes];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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
2	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
3	chr11:46385400-46401200	Strong transcription	Dnd41	blood
4	chr11:46386000-46398200	Weak transcription	Primary B cells from cord blood	blood
5	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
6	chr11:46386600-46396000	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr11:46387200-46399200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:46387600-46396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:46388600-46396200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr11:46388600-46400200	Strong transcription	Gastric	stomach
11	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46389000-46399600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:46389000-46399600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
15	chr11:46389400-46400200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:46389400-46400400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:46389400-46401400	Strong transcription	Primary T cells from cord blood	blood
18	chr11:46389600-46396600	Weak transcription	Fetal Lung	lung
19	chr11:46389600-46397000	Strong transcription	Spleen	Spleen
20	chr11:46389600-46398400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:46389600-46399200	Strong transcription	Right Ventricle	heart
22	chr11:46389600-46399800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:46389600-46400200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:46389600-46400200	Strong transcription	Liver	Liver
25	chr11:46389600-46400200	Strong transcription	Left Ventricle	heart
26	chr11:46389600-46400200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:46389600-46400400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:46389600-46400400	Strong transcription	Adipose Nuclei	Adipose
29	chr11:46389600-46400400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr11:46389600-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:46389600-46401800	Weak transcription	Stomach Mucosa	stomach
32	chr11:46389800-46398000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:46389800-46400000	Strong transcription	Pancreas	Pancrea
34	chr11:46389800-46400200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:46389800-46400200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr11:46389800-46400600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:46389800-46401000	Strong transcription	Fetal Thymus	thymus
38	chr11:46390000-46399600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:46390000-46400000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:46390200-46400000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:46390200-46400400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:46390200-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:46390800-46399000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:46391000-46399800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:46391000-46402000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:46391200-46400400	Strong transcription	Fetal Brain Female	brain
47	chr11:46391400-46396400	Weak transcription	HUVEC	blood vessel
48	chr11:46391400-46400400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:46391400-46400600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:46391400-46402200	Weak transcription	NH-A	brain

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