Variant report

Variant	rs7316141
Chromosome Location	chr12:9027429-9027430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11610808	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12818553	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1558526	0.93[MEX][hapmap];0.88[AMR][1000 genomes]
rs35687600	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35800043	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36008508	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61919508	0.91[AFR][1000 genomes]
rs71447540	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7294406	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304324	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73047829	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7959289	0.98[ASN][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	nsv1049949	chr12:9008609-9049198	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:9011800-9029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:9013600-9029400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:9013800-9033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:9022400-9030400	Weak transcription	Esophagus	oesophagus
9	chr12:9023000-9039000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:9023800-9029600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:9024000-9040000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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