Variant report

Variant	rs73577471
Chromosome Location	chr8:49782390-49782391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49776905..49778799-chr8:49782300..49784837,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10808733	0.85[AFR][1000 genomes]
rs11987465	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11991224	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16938992	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4075257	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4129251	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56030902	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56054521	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56800165	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73577446	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7464588	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7816893	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7831491	0.87[AMR][1000 genomes]
rs9657079	0.87[EUR][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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49776800-49782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:49776800-49782400	Weak transcription	Fetal Brain Female	brain
3	chr8:49778400-49782400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:49779000-49782400	Weak transcription	Esophagus	oesophagus
5	chr8:49780200-49782400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:49780600-49782400	Enhancers	NHEK	skin
9	chr8:49780600-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:49780600-49782800	Weak transcription	Spleen	Spleen
11	chr8:49780800-49782400	Weak transcription	Ovary	ovary
12	chr8:49781400-49786400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:49781600-49782400	Enhancers	HMEC	breast
14	chr8:49781600-49787000	Enhancers	Fetal Brain Male	brain
15	chr8:49781800-49782400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:49781800-49782400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr8:49781800-49782400	Bivalent Enhancer	Fetal Stomach	stomach
18	chr8:49781800-49782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:49781800-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:49782000-49782400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:49782000-49782400	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr8:49782000-49782400	Bivalent Enhancer	Fetal Kidney	kidney
23	chr8:49782200-49782400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr8:49782200-49782400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:49782200-49782400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr8:49782200-49782400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr8:49782200-49782400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:49782200-49782400	Enhancers	HUVEC	blood vessel
29	chr8:49782200-49782400	Bivalent/Poised TSS	NH-A	brain
30	chr8:49782200-49782600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:49782200-49782600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
32	chr8:49782200-49783200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:49782200-49783400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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