Variant report

Variant	rs12928493
Chromosome Location	chr16:70674498-70674499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70663642..70666612-chr16:70674243..70676912,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11859067	0.93[ASN][1000 genomes]
rs12923645	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12930471	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13336931	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16970406	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28630970	0.88[EUR][1000 genomes]
rs34234103	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34493949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34495668	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34532099	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34580834	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34714789	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34960234	0.92[EUR][1000 genomes]
rs35106114	0.82[AMR][1000 genomes]
rs56799017	0.81[ASN][1000 genomes]
rs71401819	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9925191	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9934599	0.89[EUR][1000 genomes];0.95[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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:70669600-70674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:70669600-70679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70669600-70679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
7	chr16:70670600-70675200	Weak transcription	HUVEC	blood vessel
8	chr16:70670600-70680000	Weak transcription	Fetal Intestine Small	intestine
9	chr16:70673600-70680200	Weak transcription	Brain Anterior Caudate	brain
10	chr16:70673600-70680200	Weak transcription	HSMMtube	muscle
11	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
13	chr16:70673800-70680200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:70673800-70680200	Weak transcription	Fetal Stomach	stomach
15	chr16:70673800-70682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:70674000-70680200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:70674000-70680200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:70674200-70675800	Weak transcription	HepG2	liver
19	chr16:70674200-70680200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:70674200-70680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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