Variant report

Variant	rs1213585
Chromosome Location	chr11:85395034-85395035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85392491-85397452	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:85374551..85377717-chr11:85388541..85395552,6	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	chr11:85394543..85396055-chr11:85509684..85512654,2	MCF-7	breast:
6	chr11:85389569..85392078-chr11:85394347..85396779,2	MCF-7	breast:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs290188	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs290189	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532018	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534734	1.00[EUR][1000 genomes]
rs542633	1.00[EUR][1000 genomes]
rs547361	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs636735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs671994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85392400-85396200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:85392400-85396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:85394000-85396200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
5	chr11:85394200-85395200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:85394200-85395600	Weak transcription	Fetal Stomach	stomach
7	chr11:85394200-85395600	Weak transcription	HepG2	liver
8	chr11:85394200-85395600	Weak transcription	HSMM	muscle
9	chr11:85394200-85395600	Enhancers	NHDF-Ad	bronchial
10	chr11:85394200-85395800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:85394200-85395800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:85394200-85395800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:85394200-85395800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:85394200-85395800	Weak transcription	Fetal Heart	heart
15	chr11:85394200-85395800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:85394200-85396000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:85394200-85396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:85394200-85396000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:85394200-85396000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:85394200-85396000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:85394200-85396000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:85394200-85396000	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:85394200-85396000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:85394200-85396000	Weak transcription	Brain Substantia Nigra	brain
25	chr11:85394200-85396000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:85394200-85396000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:85394200-85396000	Weak transcription	Placenta	Placenta
28	chr11:85394200-85396000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:85394200-85396000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:85394200-85396000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:85394200-85396000	Weak transcription	Stomach Mucosa	stomach
32	chr11:85394200-85396000	Weak transcription	Spleen	Spleen
33	chr11:85394200-85396000	Weak transcription	NH-A	brain
34	chr11:85394200-85396200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:85394200-85396200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:85394200-85396200	Weak transcription	Gastric	stomach
37	chr11:85394200-85396200	Weak transcription	Left Ventricle	heart
38	chr11:85394200-85396200	Weak transcription	Lung	lung
39	chr11:85394200-85396200	Weak transcription	Psoas Muscle	Psoas
40	chr11:85394200-85396200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:85394200-85396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:85394200-85396400	Weak transcription	Fetal Brain Male	brain
43	chr11:85394200-85396400	Weak transcription	Fetal Thymus	thymus
44	chr11:85394200-85396400	Weak transcription	NHEK	skin
45	chr11:85394200-85396800	Weak transcription	Esophagus	oesophagus
46	chr11:85394200-85396800	Weak transcription	Fetal Brain Female	brain
47	chr11:85394200-85396800	Weak transcription	Thymus	Thymus
48	chr11:85394200-85401800	Weak transcription	Primary T cells from cord blood	blood
49	chr11:85394200-85404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:85394200-85406200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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