Variant report

Variant	rs736633
Chromosome Location	chr11:46351349-46351350
allele	A/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	EBF1	chr11:46351340-46351619	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46337829..46340828-chr11:46350846..46352453,2	K562	blood:
2	chr11:46263634..46265173-chr11:46350706..46352821,2	MCF-7	breast:
3	chr11:46333947..46338346-chr11:46350812..46353787,3	MCF-7	breast:
4	chr11:46264390..46266191-chr11:46349248..46351838,2	K562	blood:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2891617	1.00[AMR][1000 genomes]
rs56692163	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56851661	1.00[AMR][1000 genomes]
rs58031860	1.00[AMR][1000 genomes]
rs59379166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61183349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110413	1.00[AMR][1000 genomes]
rs7117944	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7932067	1.00[AMR][1000 genomes]
rs7946071	1.00[AMR][1000 genomes]
rs7946801	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46338800-46351400	Weak transcription	Fetal Heart	heart
2	chr11:46342400-46352000	Weak transcription	Right Ventricle	heart
3	chr11:46342600-46352200	Weak transcription	Ovary	ovary
4	chr11:46342600-46353200	Weak transcription	Spleen	Spleen
5	chr11:46343200-46353800	Weak transcription	Pancreas	Pancrea
6	chr11:46344000-46351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:46344000-46352000	Weak transcription	Left Ventricle	heart
8	chr11:46344000-46354000	Weak transcription	Gastric	stomach
9	chr11:46344200-46351400	Weak transcription	HSMMtube	muscle
10	chr11:46344800-46351600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:46345000-46351400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:46345200-46352000	Weak transcription	HSMM	muscle
13	chr11:46345200-46352200	Weak transcription	Adipose Nuclei	Adipose
14	chr11:46348400-46351400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:46349200-46351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:46349800-46351600	Weak transcription	Placenta	Placenta
17	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
18	chr11:46350600-46351400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:46350800-46351400	Bivalent Enhancer	Dnd41	blood
20	chr11:46350800-46353600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:46350800-46353800	Enhancers	Fetal Thymus	thymus
22	chr11:46351000-46351400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:46351000-46351600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:46351000-46351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:46351000-46352000	Enhancers	Primary T cells from cord blood	blood
26	chr11:46351000-46352200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:46351000-46352200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:46351000-46352400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:46351000-46352400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:46351000-46352600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr11:46351200-46351400	Bivalent Enhancer	Thymus	Thymus
32	chr11:46351200-46351800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:46351200-46351800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:46351200-46351800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:46351200-46351800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr11:46351200-46352000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:46351200-46352400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:46351200-46352400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:46351200-46352600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr11:46351200-46352600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:46351200-46352600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
42	chr11:46351200-46353000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:46351200-46353400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:46351200-46353600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:46351200-46354000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:46351200-46354000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:46351200-46354000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:46351200-46354000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr11:46351200-46354200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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