Variant report

Variant	rs200554755
Chromosome Location	chr11:85396209-85396210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:85396097-85396338	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:85396032-85397685	MCF-7	breast:	n/a	n/a
3	CEBPB	chr11:85396041-85396413	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:85392491-85397452	K562	blood:	n/a	n/a
5	MXI1	chr11:85395818-85397999	IMR90	lung:	n/a	n/a
6	REST	chr11:85396049-85396384	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85387868..85389432-chr11:85395056..85397188,2	MCF-7	breast:
2	chr11:85337931..85339718-chr11:85394952..85396893,2	K562	blood:
3	chr11:85374139..85377473-chr11:85394538..85397297,3	MCF-7	breast:
4	chr11:85375817..85377426-chr11:85394328..85396398,2	K562	blood:
5	chr11:85389569..85392078-chr11:85394347..85396779,2	MCF-7	breast:

No data

Variant related genes	Relation type
CREBZF	TF binding region
ENSG00000150672	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000171204	Chromatin interaction

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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
2	chr11:85394200-85396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:85394200-85396400	Weak transcription	Fetal Brain Male	brain
4	chr11:85394200-85396400	Weak transcription	Fetal Thymus	thymus
5	chr11:85394200-85396400	Weak transcription	NHEK	skin
6	chr11:85394200-85396800	Weak transcription	Esophagus	oesophagus
7	chr11:85394200-85396800	Weak transcription	Fetal Brain Female	brain
8	chr11:85394200-85396800	Weak transcription	Thymus	Thymus
9	chr11:85394200-85401800	Weak transcription	Primary T cells from cord blood	blood
10	chr11:85394200-85404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:85394200-85406200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:85394200-85410600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:85394200-85410800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:85394400-85396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:85394400-85396400	Weak transcription	Colonic Mucosa	Colon
16	chr11:85394400-85396400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:85394400-85396400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:85394400-85400000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:85394400-85410400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:85394400-85410600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:85395600-85396800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:85395600-85396800	Flanking Active TSS	Fetal Lung	lung
23	chr11:85395600-85397000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr11:85395800-85396400	Enhancers	Brain Angular Gyrus	brain
25	chr11:85395800-85396400	Enhancers	Colon Smooth Muscle	Colon
26	chr11:85395800-85396600	Enhancers	Fetal Heart	heart
27	chr11:85395800-85396600	Enhancers	Fetal Intestine Large	intestine
28	chr11:85395800-85397000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:85395800-85397000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:85396000-85396400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:85396000-85396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:85396000-85396400	Enhancers	Brain Germinal Matrix	brain
33	chr11:85396000-85396400	Enhancers	Placenta	Placenta
34	chr11:85396000-85396400	Enhancers	NH-A	brain
35	chr11:85396000-85396600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:85396000-85396600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:85396000-85396600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr11:85396000-85396600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:85396000-85396600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:85396000-85396800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr11:85396000-85397000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:85396000-85397000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:85396000-85397000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr11:85396000-85397000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr11:85396000-85397000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr11:85396000-85397200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:85396000-85397400	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr11:85396000-85397400	Flanking Active TSS	HSMM	muscle
49	chr11:85396000-85397600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:85396000-85397800	Flanking Active TSS	Fetal Muscle Leg	muscle

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