Variant report

Variant	rs7488978
Chromosome Location	chr12:62094941-62094942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12423224	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12423666	1.00[YRI][hapmap]
rs12424427	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12424523	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12425635	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12582721	1.00[YRI][hapmap]
rs12809181	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12813362	0.87[EUR][1000 genomes]
rs12815579	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12816097	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12818321	1.00[YRI][hapmap]
rs12818949	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12821294	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1588054	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1605324	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17125406	0.86[EUR][1000 genomes]
rs1876276	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34012846	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34677376	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35150293	0.87[EUR][1000 genomes]
rs35846182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35923169	0.82[EUR][1000 genomes]
rs71465106	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71465109	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7397172	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7485627	1.00[YRI][hapmap]
rs7488706	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954960	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042044	chr12:61256015-62196885	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2829973	chr12:62078770-62115165	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv520898	chr12:62078770-62115165	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62093000-62095800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:62093200-62095800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:62093400-62095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:62094000-62102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:62094200-62095400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:62094200-62095400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:62094200-62095400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:62094200-62102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:62094400-62095000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:62094400-62095600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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