Variant report

Variant	rs73679300
Chromosome Location	chr8:50160686-50160687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50141654..50144587-chr8:50158970..50161464,2	K562	blood:
2	chr8:50158291..50160893-chr8:50161385..50163707,3	K562	blood:
3	chr8:50154600..50156142-chr8:50160235..50163146,2	K562	blood:
4	chr8:50154056..50156142-chr8:50160235..50163146,3	K562	blood:
5	chr8:50157596..50161511-chr8:50162518..50165588,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56328451	1.00[AMR][1000 genomes]
rs58739325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678539	1.00[AMR][1000 genomes]
rs73678541	1.00[AMR][1000 genomes]
rs73678560	1.00[AMR][1000 genomes]
rs73679294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679298	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679505	1.00[AMR][1000 genomes]
rs73679518	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679520	1.00[AMR][1000 genomes]
rs73679524	0.89[AFR][1000 genomes]
rs73679526	0.89[AFR][1000 genomes]
rs73679528	0.89[AFR][1000 genomes]
rs73679529	0.89[AFR][1000 genomes]
rs73681607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73681614	1.00[AMR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50157400-50161200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:50159400-50161200	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:50159400-50161400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:50159400-50161400	Enhancers	K562	blood
5	chr8:50159800-50161200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:50160000-50161600	Enhancers	Dnd41	blood
7	chr8:50160600-50162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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