Variant report

Variant	rs7308761
Chromosome Location	chr12:118002840-118002841
allele	A/G
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:7)

rs_ID	r²[population]
rs11068609	1.00[EUR][1000 genomes]
rs12306134	1.00[EUR][1000 genomes]
rs16947652	1.00[EUR][1000 genomes]
rs56165840	1.00[EUR][1000 genomes]
rs60759188	1.00[EUR][1000 genomes]
rs7309935	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73405380	0.89[AFR][1000 genomes];1.00[EUR][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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117975000-118018200	Weak transcription	HUVEC	blood vessel
2	chr12:118002400-118003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:118002400-118003200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:118002600-118003200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:118002600-118003200	Enhancers	Fetal Brain Male	brain
6	chr12:118002600-118003400	Enhancers	Brain Anterior Caudate	brain
7	chr12:118002800-118003000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:118002800-118003200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:118002800-118003200	Enhancers	Brain Cingulate Gyrus	brain
10	chr12:118002800-118003400	Enhancers	Brain Inferior Temporal Lobe	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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