Variant report

Variant	rs12300089
Chromosome Location	chr12:44959418-44959419
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10748398	0.84[YRI][hapmap];0.88[AFR][1000 genomes]
rs11182536	0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11182537	0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11615791	0.84[AMR][1000 genomes]
rs11831885	0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12296643	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12297797	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12299765	0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12304042	0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12304650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1376995	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1452258	0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17094772	0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1947351	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs61391734	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7138909	0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7294590	0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7300240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303239	0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs74087622	0.84[AMR][1000 genomes]
rs7955046	0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7958418	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964112	0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7964288	0.81[AFR][1000 genomes];0.92[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:44946400-44976400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:44950000-44964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:44954400-44970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:44957400-44964000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:44959200-44959600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:44959200-44964000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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