Variant report

Variant	rs56198525
Chromosome Location	chr6:147225129-147225130
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147222495..147225240-chr6:147606408..147608326,2	K562	blood:
2	chr6:147224255..147227210-chr6:147538729..147540565,2	K562	blood:
3	chr6:147223268..147225541-chr6:147530064..147532627,3	K562	blood:
4	chr6:147222414..147228613-chr6:147523028..147527280,11	MCF-7	breast:
5	chr6:147222212..147229913-chr6:147522379..147526472,14	MCF-7	breast:
6	chr6:147221788..147226460-chr6:147542201..147549451,7	K562	blood:
7	chr6:147223899..147226748-chr6:147275966..147278820,2	K562	blood:
8	chr6:147222683..147225262-chr6:147248637..147251442,2	K562	blood:
9	chr6:147223063..147225142-chr6:147528018..147531876,3	K562	blood:
10	chr6:147223830..147226657-chr6:147694168..147696836,2	K562	blood:
11	chr6:147222438..147225404-chr6:147523543..147527652,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11966058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17076418	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17076421	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328768	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60743508	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61615562	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6906745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923489	0.90[ASN][1000 genomes]
rs6939002	0.90[ASN][1000 genomes]
rs73786784	0.90[ASN][1000 genomes]
rs7738936	0.90[ASN][1000 genomes]
rs7773366	0.90[ASN][1000 genomes]
rs9485128	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147218000-147225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:147218200-147226600	Weak transcription	NHLF	lung
3	chr6:147222000-147226000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:147222800-147225200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:147223200-147226800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:147223200-147227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:147223600-147225400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:147223800-147225400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:147223800-147227400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:147223800-147228200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:147224000-147225800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:147224000-147226000	Weak transcription	A549	lung
13	chr6:147224000-147233600	Weak transcription	HSMM	muscle
14	chr6:147224200-147226200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:147224400-147225200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:147224400-147225800	Weak transcription	Osteobl	bone
17	chr6:147224600-147226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:147224600-147226000	Weak transcription	NHDF-Ad	bronchial
19	chr6:147224800-147226600	Weak transcription	K562	blood
20	chr6:147224800-147227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:147225000-147225200	Enhancers	Brain Germinal Matrix	brain
22	chr6:147225000-147225400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:147225000-147226800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:147225000-147227000	Enhancers	Fetal Lung	lung

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