Variant report

Variant	rs56393100
Chromosome Location	chr2:11551981-11551982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11272538..11273432-chr2:11551891..11552775,4	MCF-7	breast:
2	chr2:11481418..11485442-chr2:11551685..11553669,3	MCF-7	breast:
3	chr2:11272425..11273434-chr2:11551488..11552819,6	MCF-7	breast:
4	chr2:11374212..11375451-chr2:11551558..11552743,6	MCF-7	breast:
5	chr2:11373616..11376796-chr2:11550813..11553258,3	MCF-7	breast:
6	chr2:11374199..11375054-chr2:11551561..11552747,4	MCF-7	breast:
7	chr2:11545022..11549769-chr2:11549850..11555213,6	K562	blood:
8	chr2:11480197..11487084-chr2:11550062..11554181,8	MCF-7	breast:
9	chr2:11283970..11284534-chr2:11551838..11552553,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207267	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57683597	1.00[AMR][1000 genomes]
rs61394202	1.00[AMR][1000 genomes]
rs73915405	1.00[AMR][1000 genomes]
rs73915406	1.00[AMR][1000 genomes]
rs73915408	1.00[AMR][1000 genomes]
rs73915414	1.00[AMR][1000 genomes]
rs73915415	1.00[AMR][1000 genomes]
rs73917204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917243	1.00[AMR][1000 genomes]
rs73917246	1.00[AMR][1000 genomes]
rs73917247	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11545000-11552000	Weak transcription	Lung	lung
2	chr2:11546200-11552000	Weak transcription	Right Ventricle	heart
3	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
4	chr2:11548000-11552000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:11548200-11552000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:11548200-11552000	Weak transcription	HSMMtube	muscle
7	chr2:11548400-11552200	Weak transcription	Psoas Muscle	Psoas
8	chr2:11548400-11552400	Weak transcription	Small Intestine	intestine
9	chr2:11550200-11552200	Weak transcription	NHDF-Ad	bronchial
10	chr2:11550400-11552000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:11550600-11552000	Enhancers	Fetal Intestine Large	intestine
12	chr2:11550800-11552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:11550800-11552000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:11550800-11553000	Enhancers	HepG2	liver
15	chr2:11551000-11552600	Enhancers	Fetal Heart	heart
16	chr2:11551200-11552000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:11551200-11552000	Enhancers	Fetal Lung	lung
18	chr2:11551200-11552200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11551400-11552000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:11551400-11552000	Enhancers	Fetal Stomach	stomach
21	chr2:11551400-11552000	Enhancers	Stomach Mucosa	stomach
22	chr2:11551400-11552000	Enhancers	K562	blood
23	chr2:11551400-11552600	Enhancers	Placenta	Placenta
24	chr2:11551400-11552600	Enhancers	Left Ventricle	heart
25	chr2:11551400-11552800	Enhancers	Fetal Kidney	kidney
26	chr2:11551600-11552000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:11551600-11552000	Active TSS	Colonic Mucosa	Colon
28	chr2:11551600-11552000	Enhancers	Colon Smooth Muscle	Colon
29	chr2:11551600-11552000	Enhancers	Spleen	Spleen
30	chr2:11551600-11552400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:11551600-11552800	Enhancers	Hela-S3	cervix
32	chr2:11551800-11552000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:11551800-11552000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:11551800-11552000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:11551800-11552000	Flanking Active TSS	Liver	Liver
36	chr2:11551800-11552000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr2:11551800-11552000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr2:11551800-11552000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:11551800-11552000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:11551800-11552000	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr2:11551800-11552000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr2:11551800-11552000	Flanking Active TSS	Osteobl	bone
43	chr2:11551800-11552200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:11551800-11552200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:11551800-11552200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:11551800-11552200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:11551800-11552200	Flanking Active TSS	GM12878-XiMat	blood
48	chr2:11551800-11552400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:11551800-11552400	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:11551800-11552400	Enhancers	Primary hematopoietic stem cells	blood

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