Variant report

Variant	rs12494027
Chromosome Location	chr3:112808120-112808121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10446299	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10446301	0.80[ASN][1000 genomes]
rs11706764	0.82[ASN][1000 genomes]
rs11714666	0.80[ASN][1000 genomes]
rs12490614	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13063281	0.82[ASN][1000 genomes]
rs34958128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767661	0.93[ASN][1000 genomes]
rs7647147	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112784800-112824000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:112806000-112808400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:112806200-112811400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:112806200-112811600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:112806400-112813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:112806600-112813000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:112807000-112808800	Strong transcription	Primary T cells from cord blood	blood
8	chr3:112807000-112812800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:112807200-112812800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:112807400-112811600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:112807600-112812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:112807600-112813000	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:112807800-112811000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:112807800-112811600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:112807800-112812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:112808000-112808800	Enhancers	Adipose Nuclei	Adipose

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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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