Variant report

Variant	rs368198007
Chromosome Location	chr11:46355349-46355350
allele	C/G
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	chr11:46353944-46355483	H1-neurons	neurons:	n/a	n/a
2	REST	chr11:46353902-46355520	H1-neurons	neurons:	n/a	chr11:46354643-46354656 chr11:46354637-46354650
3	POLR2A	chr11:46353935-46355419	H1-neurons	neurons:	n/a	n/a
4	TAF1	chr11:46354907-46355408	H1-neurons	neurons:	n/a	n/a
5	SPI1	chr11:46355172-46355579	HL-60	blood:	n/a	n/a
6	CREB1	chr11:46354889-46355395	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46328323..46330556-chr11:46354487..46356134,2	K562	blood:

Variant related genes	Relation type
DGKZ	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3345003	chr11:46353526-46356074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
2	chr11:46353200-46356000	Enhancers	Spleen	Spleen
3	chr11:46353600-46355800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46353800-46355400	Enhancers	Fetal Heart	heart
5	chr11:46354000-46355400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:46354000-46355400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:46354000-46355400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:46354000-46355400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr11:46354000-46355400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr11:46354000-46355600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:46354000-46356400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:46354200-46355400	Bivalent/Poised TSS	NHEK	skin
18	chr11:46354200-46355600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
19	chr11:46354200-46355600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:46354200-46355600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr11:46354200-46355800	Active TSS	Brain Angular Gyrus	brain
22	chr11:46354400-46355600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr11:46354600-46355400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:46354600-46355400	Bivalent Enhancer	Fetal Lung	lung
25	chr11:46354600-46355800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:46354800-46355400	Flanking Bivalent TSS/Enh	Thymus	Thymus
27	chr11:46354800-46355400	Flanking Bivalent TSS/Enh	Dnd41	blood
28	chr11:46354800-46355800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
32	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr11:46355000-46355400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:46355000-46355400	Bivalent Enhancer	Esophagus	oesophagus
36	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr11:46355000-46355400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
41	chr11:46355000-46355400	Flanking Active TSS	Right Ventricle	heart
42	chr11:46355000-46355400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr11:46355000-46355400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
44	chr11:46355000-46355600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:46355000-46355600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:46355000-46355600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr11:46355000-46355600	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr11:46355000-46355800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:46355000-46356000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr11:46355000-46356000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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