Variant report

Variant	rs12489315
Chromosome Location	chr3:135318816-135318817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12496440	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065615	0.97[EUR][1000 genomes]
rs13065649	0.97[EUR][1000 genomes]
rs13070343	0.97[EUR][1000 genomes]
rs6808137	0.82[EUR][1000 genomes]
rs7612342	0.81[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	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135316800-135320000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr3:135316800-135320200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:135317000-135319200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:135317000-135319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:135317800-135319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:135317800-135319200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:135318200-135319400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:135318200-135319400	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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