Variant report

Variant	rs62499993
Chromosome Location	chr8:20144985-20144986
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20144491..20147216-chr8:20149456..20152230,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11204109	0.90[ASN][1000 genomes]
rs12114422	0.97[ASN][1000 genomes]
rs12545373	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546414	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547641	0.89[ASN][1000 genomes]
rs12675554	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12677666	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60077789	0.96[ASN][1000 genomes]
rs62499991	0.96[ASN][1000 genomes]
rs62499992	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7016149	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
2	chr8:20138800-20145600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:20140000-20145400	Weak transcription	Placenta	Placenta
4	chr8:20140200-20145400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:20141800-20145600	Weak transcription	Ovary	ovary
6	chr8:20141800-20146600	Weak transcription	HSMMtube	muscle
7	chr8:20142000-20147400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:20142400-20145600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:20142400-20146800	Weak transcription	NHLF	lung
10	chr8:20142800-20145800	Weak transcription	NHDF-Ad	bronchial
11	chr8:20143600-20145600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:20144000-20145000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:20144200-20145000	ZNF genes & repeats	HSMM	muscle
14	chr8:20144200-20154800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:20144400-20145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:20144400-20145400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:20144400-20145400	Weak transcription	Esophagus	oesophagus
18	chr8:20144400-20145600	Weak transcription	Right Atrium	heart
19	chr8:20144400-20145800	Weak transcription	Brain Anterior Caudate	brain
20	chr8:20144400-20146800	Weak transcription	Fetal Brain Male	brain
21	chr8:20144800-20145000	Enhancers	Fetal Kidney	kidney
22	chr8:20144800-20145400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:20144800-20145400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:20144800-20145400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:20144800-20145600	Weak transcription	Fetal Brain Female	brain
26	chr8:20144800-20145600	Enhancers	Fetal Intestine Large	intestine
27	chr8:20144800-20145800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr8:20144800-20146200	Genic enhancers	Dnd41	blood
29	chr8:20144800-20146800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:20144800-20147400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:20144800-20150400	Enhancers	Fetal Muscle Leg	muscle

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