Variant report

Variant	rs7314593
Chromosome Location	chr12:42001725-42001726
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12370147	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs176281	0.81[ASN][1000 genomes]
rs1874364	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs287003	0.82[ASN][1000 genomes]
rs287004	0.82[ASN][1000 genomes]
rs287022	0.81[ASN][1000 genomes]
rs287068	0.94[ASN][1000 genomes]
rs287071	0.95[ASN][1000 genomes]
rs4768360	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7136423	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7138511	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7297203	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7963186	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7974146	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42000200-42003800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:42000600-42012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:42001000-42001800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:42001200-42002200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:42001200-42002400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:42001400-42002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:42001400-42002600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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