Variant report

Variant	rs7961727
Chromosome Location	chr12:124637099-124637100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10744165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057471	1.00[ASN][1000 genomes]
rs11057521	1.00[ASN][1000 genomes]
rs12809315	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813142	1.00[ASN][1000 genomes]
rs12827974	1.00[ASN][1000 genomes]
rs12832596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660813	1.00[ASN][1000 genomes]
rs7136170	1.00[ASN][1000 genomes]
rs7300551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302202	1.00[ASN][1000 genomes]
rs7312585	1.00[ASN][1000 genomes]
rs7315307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962075	1.00[ASN][1000 genomes]
rs7971227	1.00[ASN][1000 genomes]
rs7975859	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7961727	ATP6V0A2	cis	lesional skin	skin_eQTL
rs7961727	GPR61	trans	cerebellum	SCAN
rs7961727	LRRC43	cis	cerebellum	SCAN
rs7961727	C12orf65	cis	parietal	SCAN
rs7961727	GSTT1	trans	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124632000-124641800	Weak transcription	Fetal Brain Female	brain
2	chr12:124632600-124643600	Weak transcription	Fetal Kidney	kidney
3	chr12:124634800-124637400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:124635000-124642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:124636600-124637600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:124636600-124637800	Enhancers	Fetal Brain Male	brain
7	chr12:124636600-124638000	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:124636800-124638400	Enhancers	Fetal Stomach	stomach
9	chr12:124636800-124639000	Enhancers	Fetal Muscle Leg	muscle
10	chr12:124636800-124641800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:124637000-124637400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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