Variant report

Variant	rs12494672
Chromosome Location	chr3:60570031-60570032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10510849	0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs10510850	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11130775	0.80[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs11130776	0.90[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12054041	0.90[ASN][1000 genomes]
rs12487370	0.83[CEU][hapmap]
rs12489122	0.83[CEU][hapmap]
rs12491463	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12495226	0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17063517	0.83[CEU][hapmap]
rs2121858	0.83[CEU][hapmap]
rs28448293	0.90[ASN][1000 genomes]
rs72885798	0.86[ASN][1000 genomes]
rs73834244	0.82[AMR][1000 genomes];0.88[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	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv999828	chr3:60537384-60785274	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60555400-60573600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:60561800-60573400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:60565000-60570800	Weak transcription	Primary B cells from cord blood	blood
4	chr3:60566000-60573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:60566200-60574400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:60566600-60570800	Weak transcription	Aorta	Aorta
7	chr3:60568800-60573400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:60568800-60573400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:60568800-60573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:60569000-60573600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:60569400-60570200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:60569600-60570600	Enhancers	Osteobl	bone
13	chr3:60569800-60570600	Enhancers	NH-A	brain

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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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