Variant report

Variant	rs6451716
Chromosome Location	chr5:43579094-43579095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43578506..43581941-chr5:43601710..43604762,3	K562	blood:
2	chr5:43482790..43485148-chr5:43578533..43581447,2	K562	blood:

Variant related genes	Relation type
ENSG00000248092	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7715976	0.80[AMR][1000 genomes]
rs9764227	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	esv3400117	chr5:43577845-43580993	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	5 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	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
2	chr5:43560200-43584400	Weak transcription	K562	blood
3	chr5:43564600-43580200	Weak transcription	Fetal Kidney	kidney
4	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
5	chr5:43565600-43581800	Weak transcription	Dnd41	blood
6	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
7	chr5:43566400-43580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:43566800-43586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
12	chr5:43568400-43581800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
14	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:43569200-43591800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:43570000-43582000	Weak transcription	Liver	Liver
17	chr5:43570200-43581600	Weak transcription	Left Ventricle	heart
18	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
19	chr5:43572000-43579600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:43572000-43591800	Weak transcription	Aorta	Aorta
21	chr5:43572000-43602400	Weak transcription	Ovary	ovary
22	chr5:43572400-43582600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:43572600-43583400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:43572800-43582000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:43572800-43584400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:43573000-43582200	Weak transcription	HSMMtube	muscle
27	chr5:43573000-43582400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:43573000-43582600	Weak transcription	Adipose Nuclei	Adipose
29	chr5:43573000-43601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:43573000-43601800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:43573400-43581600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:43573600-43583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:43573800-43584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:43574000-43579200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:43574000-43580600	Weak transcription	Lung	lung
36	chr5:43574000-43581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:43574000-43583800	Weak transcription	Brain Angular Gyrus	brain
38	chr5:43574000-43601800	Weak transcription	Brain Anterior Caudate	brain
39	chr5:43574200-43582000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:43574400-43582600	Weak transcription	Fetal Lung	lung
41	chr5:43574400-43600800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:43575000-43584800	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:43575000-43589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:43575000-43592400	Weak transcription	Brain Germinal Matrix	brain
45	chr5:43575000-43601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:43575800-43590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:43575800-43592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:43576000-43582600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:43576200-43581000	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:43576400-43601400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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