Variant report

Variant	rs373118973
Chromosome Location	chr11:46355403-46355404
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	ELF1	chr11:46355402-46355776	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:46353944-46355483	H1-neurons	neurons:	n/a	n/a
3	REST	chr11:46353902-46355520	H1-neurons	neurons:	n/a	chr11:46354643-46354656 chr11:46354637-46354650
4	POLR2A	chr11:46353935-46355419	H1-neurons	neurons:	n/a	n/a
5	TAF1	chr11:46354907-46355408	H1-neurons	neurons:	n/a	n/a
6	SPI1	chr11:46355172-46355579	HL-60	blood:	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:73 , 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	chr11:46354000-46355600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:46354000-46356400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:46354200-46355600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
7	chr11:46354200-46355600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:46354200-46355600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr11:46354200-46355800	Active TSS	Brain Angular Gyrus	brain
10	chr11:46354400-46355600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr11:46354600-46355800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:46354800-46355800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr11:46355000-46355600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:46355000-46355600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:46355000-46355600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr11:46355000-46355600	Flanking Bivalent TSS/Enh	Placenta	Placenta
17	chr11:46355000-46355800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:46355000-46356000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr11:46355000-46356000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:46355000-46356000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
21	chr11:46355000-46356000	Enhancers	Lung	lung
22	chr11:46355000-46356400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr11:46355000-46358000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:46355200-46355600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr11:46355200-46355600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr11:46355200-46355600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:46355200-46355600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:46355200-46355600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr11:46355200-46355600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:46355200-46355600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:46355200-46355600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:46355200-46355600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr11:46355200-46355600	Active TSS	Right Atrium	heart
34	chr11:46355200-46355800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46355200-46356000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:46355200-46356200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:46355200-46356400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr11:46355200-46356400	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr11:46355200-46356400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:46355200-46356400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr11:46355200-46356400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr11:46355200-46358600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr11:46355200-46360200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:46355200-46360200	Weak transcription	Pancreas	Pancrea
45	chr11:46355200-46360600	Weak transcription	Gastric	stomach
46	chr11:46355400-46355600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr11:46355400-46355600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:46355400-46355600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:46355400-46355600	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr11:46355400-46355600	Bivalent Enhancer	Brain Germinal Matrix	brain

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