Variant report

Variant	rs73383548
Chromosome Location	chr8:130280476-130280477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130278629..130280866-chr8:130281362..130283967,2	K562	blood:
2	chr8:130275339..130277857-chr8:130279376..130280924,2	K562	blood:
3	chr8:130279344..130281608-chr8:130302415..130304474,2	K562	blood:

Variant related genes	Relation type
ENSG00000222755	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16904020	1.00[AFR][1000 genomes]
rs16904021	1.00[AFR][1000 genomes]
rs16904024	1.00[AFR][1000 genomes]
rs56683575	0.95[AFR][1000 genomes]
rs57828019	0.95[AFR][1000 genomes]
rs73383531	0.89[AFR][1000 genomes]
rs73383539	0.89[AFR][1000 genomes]
rs73383550	1.00[AFR][1000 genomes]
rs73383577	1.00[AFR][1000 genomes]
rs73383583	0.95[AFR][1000 genomes]
rs73383590	0.95[AFR][1000 genomes]
rs73383592	0.95[AFR][1000 genomes]
rs73383596	0.95[AFR][1000 genomes]
rs73385507	0.80[AFR][1000 genomes]
rs73385508	0.95[AFR][1000 genomes]
rs73385522	0.95[AFR][1000 genomes]
rs73385524	0.95[AFR][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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130254000-130282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130278800-130290600	Weak transcription	K562	blood
3	chr8:130279400-130280600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:130279400-130280600	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:130279400-130280800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:130279400-130280800	Enhancers	Osteobl	bone
7	chr8:130279400-130281000	Enhancers	Colon Smooth Muscle	Colon
8	chr8:130279400-130282000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:130279400-130282400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:130279400-130282600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:130279600-130280600	Enhancers	Fetal Stomach	stomach
12	chr8:130279600-130282000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:130279800-130280800	Enhancers	Brain Germinal Matrix	brain
14	chr8:130279800-130281000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:130279800-130282200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:130280000-130280600	Enhancers	NHDF-Ad	bronchial
17	chr8:130280000-130281000	Enhancers	Fetal Lung	lung
18	chr8:130280200-130288800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:130280400-130280600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:130280400-130280800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:130280400-130281400	Weak transcription	Adipose Nuclei	Adipose

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