Variant report

Variant	rs12550743
Chromosome Location	chr8:89226690-89226691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10107227	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464280	1.00[EUR][1000 genomes]
rs1519935	1.00[AMR][1000 genomes]
rs1519936	1.00[EUR][1000 genomes]
rs1879200	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2337520	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28904610	1.00[EUR][1000 genomes]
rs6469296	1.00[AMR][1000 genomes]
rs6469306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992279	1.00[EUR][1000 genomes]
rs7010490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815828	1.00[AMR][1000 genomes]
rs7833482	1.00[AMR][1000 genomes]
rs7841851	1.00[AMR][1000 genomes]
rs939277	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv527243	chr8:89217541-89227970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89215200-89227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:89217800-89231400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:89220000-89227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:89220200-89227800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:89220600-89227600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:89220600-89227800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:89224400-89227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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