Variant report

Variant	rs73388098
Chromosome Location	chr8:130214405-130214406
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	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
2	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57600099	0.95[AFR][1000 genomes]
rs73386056	0.95[AFR][1000 genomes]
rs73386057	0.95[AFR][1000 genomes]
rs73386059	0.95[AFR][1000 genomes]
rs73386064	0.95[AFR][1000 genomes]
rs73386068	0.95[AFR][1000 genomes]
rs73386075	0.95[AFR][1000 genomes]
rs73386078	0.95[AFR][1000 genomes]
rs73386087	0.95[AFR][1000 genomes]
rs73386089	0.85[AFR][1000 genomes]
rs73386091	0.95[AFR][1000 genomes]
rs73386095	0.95[AFR][1000 genomes]
rs73388058	0.95[AFR][1000 genomes]
rs73388060	0.95[AFR][1000 genomes]
rs73388068	0.95[AFR][1000 genomes]
rs73388089	0.95[AFR][1000 genomes]
rs73390005	1.00[AFR][1000 genomes]
rs73390007	1.00[AFR][1000 genomes]
rs73390008	1.00[AFR][1000 genomes]
rs73390011	1.00[AFR][1000 genomes]
rs73390015	0.95[AFR][1000 genomes]
rs73390023	0.89[AFR][1000 genomes]
rs73390036	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	nsv612229	chr8:130213203-130252229	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130205400-130214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130208200-130241600	Weak transcription	Thymus	Thymus
3	chr8:130209600-130214600	Weak transcription	Fetal Stomach	stomach
4	chr8:130209800-130214600	Weak transcription	Ovary	ovary
5	chr8:130210000-130215000	Genic enhancers	Dnd41	blood
6	chr8:130210000-130216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:130211400-130215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:130213400-130215000	Enhancers	K562	blood
9	chr8:130213600-130215600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:130213800-130215600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:130213800-130215600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:130214000-130215400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130214000-130216800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:130214200-130215200	Enhancers	Fetal Thymus	thymus
15	chr8:130214200-130215200	Enhancers	HUVEC	blood vessel
16	chr8:130214200-130216800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:130214400-130214800	Enhancers	Adipose Nuclei	Adipose
18	chr8:130214400-130215200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:130214400-130215400	Enhancers	Fetal Lung	lung
20	chr8:130214400-130215400	Enhancers	NH-A	brain
21	chr8:130214400-130215400	Enhancers	NHDF-Ad	bronchial
22	chr8:130214400-130215600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:130214400-130215600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:130214400-130215600	Enhancers	Osteobl	bone
25	chr8:130214400-130216800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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