Variant report

Variant	rs1480388
Chromosome Location	chr8:50147137-50147138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10957382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548812	0.84[ASN][1000 genomes]
rs12708031	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13256466	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261521	0.85[CEU][hapmap]
rs13262902	0.85[CEU][hapmap]
rs1383274	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480390	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1585895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1703573	0.97[ASN][1000 genomes]
rs1703574	0.97[ASN][1000 genomes]
rs1842403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842404	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385328	0.84[AFR][1000 genomes]
rs2891746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4427188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472291	0.84[AFR][1000 genomes]
rs6985247	0.97[ASN][1000 genomes]
rs7001422	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015074	0.97[ASN][1000 genomes]
rs73678572	1.00[ASN][1000 genomes]
rs7832761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643588	0.85[CEU][hapmap]
rs9643589	0.84[ASN][1000 genomes]
rs9792367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv428517	chr8:50094920-50232993	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv890855	chr8:50109365-50252962	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv890856	chr8:50133485-50272497	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890857	chr8:50133485-50469764	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50139200-50159400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:50145200-50147200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:50145600-50147200	Enhancers	Hela-S3	cervix
4	chr8:50145800-50147200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:50146400-50147200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:50146400-50148000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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