Variant report

Variant	rs404146
Chromosome Location	chr8:90852965-90852966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90850950..90853766-chr8:90995447..90997024,2	K562	blood:
2	chr8:90852614..90855258-chr8:90856891..90858844,2	MCF-7	breast:
3	chr8:90852737..90854940-chr8:90914150..90915970,2	MCF-7	breast:
4	chr8:90845301..90847765-chr8:90850348..90853325,2	MCF-7	breast:
5	chr8:90816818..90818597-chr8:90852863..90855109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs379174	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381326	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381948	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393781	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39517	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39518	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs398957	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400613	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40383	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs404292	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs410014	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs410927	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs428441	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431623	1.00[ASN][1000 genomes]
rs431985	0.96[ASN][1000 genomes]
rs454020	0.84[EUR][1000 genomes];1.00[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2761448	chr8:90837630-90853986	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:90847600-90860600	Weak transcription	Aorta	Aorta
2	chr8:90850000-90853000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:90850200-90853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:90850200-90853200	Weak transcription	NHLF	lung
5	chr8:90850200-90853800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:90850200-90853800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:90850200-90853800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:90850200-90853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:90850200-90853800	Weak transcription	Osteobl	bone
10	chr8:90850200-90860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:90850400-90853200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:90850400-90853200	Weak transcription	NHDF-Ad	bronchial
13	chr8:90850400-90854400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:90850400-90860200	Weak transcription	GM12878-XiMat	blood
15	chr8:90850800-90854600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:90851400-90853200	Weak transcription	A549	lung
17	chr8:90852200-90854200	Enhancers	HUVEC	blood vessel
18	chr8:90852200-90854600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:90852200-90854600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:90852400-90853200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:90852600-90854200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:90852600-90854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:90852800-90853400	Enhancers	Placenta	Placenta
24	chr8:90852800-90855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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