Variant report

Variant	rs12680104
Chromosome Location	chr8:59463619-59463620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59460875..59463855-chr8:59467484..59470107,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10085973	0.83[EUR][1000 genomes]
rs10090425	0.84[EUR][1000 genomes]
rs10090964	0.94[EUR][1000 genomes]
rs10092359	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10094910	0.83[EUR][1000 genomes]
rs10099153	0.90[EUR][1000 genomes]
rs10099240	0.83[EUR][1000 genomes]
rs10099912	0.90[EUR][1000 genomes]
rs10100873	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10102709	0.97[EUR][1000 genomes]
rs10106272	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10107530	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10110065	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10110111	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111052	0.83[EUR][1000 genomes]
rs10111506	0.95[EUR][1000 genomes]
rs10113750	0.94[EUR][1000 genomes]
rs1050488	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1050504	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11774558	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775194	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11776003	0.94[EUR][1000 genomes]
rs11782455	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11783174	0.91[EUR][1000 genomes]
rs11785141	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12335008	0.91[EUR][1000 genomes]
rs12674568	0.97[EUR][1000 genomes]
rs12676593	0.90[EUR][1000 genomes]
rs12678669	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680996	0.95[EUR][1000 genomes]
rs16923562	0.95[EUR][1000 genomes]
rs16923564	0.95[EUR][1000 genomes]
rs17263989	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976162	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1991359	0.95[EUR][1000 genomes]
rs2279462	0.81[EUR][1000 genomes]
rs28429491	0.95[EUR][1000 genomes]
rs28650441	0.95[EUR][1000 genomes]
rs28656336	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28711402	0.82[AMR][1000 genomes]
rs28809811	0.80[EUR][1000 genomes]
rs3739327	0.82[EUR][1000 genomes]
rs3808609	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816846	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4282557	0.83[EUR][1000 genomes]
rs4400367	0.83[EUR][1000 genomes]
rs55774738	0.95[EUR][1000 genomes]
rs56249776	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59979442	0.90[EUR][1000 genomes]
rs6471729	0.95[EUR][1000 genomes]
rs6471731	0.84[EUR][1000 genomes]
rs6981601	0.95[EUR][1000 genomes]
rs6986129	0.95[EUR][1000 genomes]
rs7009248	0.95[EUR][1000 genomes]
rs7009374	0.95[EUR][1000 genomes]
rs7011095	0.88[EUR][1000 genomes]
rs7014398	0.95[EUR][1000 genomes]
rs72647424	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72647425	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72647434	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72647435	0.91[EUR][1000 genomes]
rs72647437	0.85[AMR][1000 genomes]
rs72647443	0.81[AMR][1000 genomes]
rs7817515	0.94[EUR][1000 genomes]
rs7825996	0.91[EUR][1000 genomes]
rs7827910	0.83[EUR][1000 genomes]
rs7843989	0.85[EUR][1000 genomes]
rs9297995	0.94[EUR][1000 genomes]
rs9297997	0.82[EUR][1000 genomes]
rs9297999	0.92[AMR][1000 genomes];0.93[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59456200-59465000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:59458800-59465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:59461400-59465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:59461600-59465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:59462200-59464600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:59462400-59465000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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