Variant report

Variant	rs7450643
Chromosome Location	chr6:145338303-145338304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1012099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1012100	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155391	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1890472	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1933927	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1933928	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019545	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2068343	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2153140	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2876601	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3861403	0.86[EUR][1000 genomes]
rs3966674	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4895665	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896769	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570669	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6913592	0.83[EUR][1000 genomes]
rs6924480	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6929370	0.94[ASN][1000 genomes]
rs7741672	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7754511	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9376890	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9376891	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390273	0.88[EUR][1000 genomes]
rs9399529	0.86[EUR][1000 genomes]
rs9497171	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951020	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
2	nsv886742	chr6:145269757-145376903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7450643	PLAGL1	cis	cerebellum	SCAN
rs7450643	AIG1	cis	parietal	SCAN
rs7450643	HIVEP2	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145328400-145339200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:145333600-145344200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:145333800-145339200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:145334200-145344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:145334600-145338600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:145335800-145339400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:145335800-145339600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:145336000-145339000	Enhancers	NHDF-Ad	bronchial
9	chr6:145336000-145339000	Enhancers	Osteobl	bone
10	chr6:145336200-145338800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:145336800-145338400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:145336800-145338600	Enhancers	NHLF	lung
13	chr6:145336800-145338800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:145337200-145338600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:145337200-145344200	Weak transcription	Left Ventricle	heart
16	chr6:145337400-145338400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:145337600-145338600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:145337600-145338600	Weak transcription	HSMM	muscle
19	chr6:145337600-145338600	Weak transcription	NH-A	brain
20	chr6:145337600-145339000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:145337600-145340600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:145338000-145343800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:145338200-145338800	Enhancers	Muscle Satellite Cultured Cells	--

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