Variant report

Variant	rs12678669
Chromosome Location	chr8:59454944-59454945
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	chr8:59454123..59456921-chr8:59465192..59467708,2	K562	blood:
2	chr8:59454868..59456984-chr8:59506073..59508390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10090964	0.89[EUR][1000 genomes]
rs10092359	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10099153	0.82[EUR][1000 genomes]
rs10099912	0.82[EUR][1000 genomes]
rs10100873	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102709	0.89[EUR][1000 genomes]
rs10106272	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10107530	0.80[AMR][1000 genomes]
rs10110065	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110111	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10111506	0.88[EUR][1000 genomes]
rs10113750	0.87[EUR][1000 genomes]
rs1050488	0.86[AMR][1000 genomes]
rs1050504	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11774558	0.80[AMR][1000 genomes]
rs11775194	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776003	0.86[EUR][1000 genomes]
rs11782455	0.80[AMR][1000 genomes]
rs11783174	0.83[EUR][1000 genomes]
rs11785141	0.80[AMR][1000 genomes]
rs12335008	0.83[EUR][1000 genomes]
rs12674568	0.89[EUR][1000 genomes]
rs12676593	0.82[EUR][1000 genomes]
rs12679938	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680104	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680996	0.87[EUR][1000 genomes]
rs16923562	0.87[EUR][1000 genomes]
rs16923564	0.88[EUR][1000 genomes]
rs17263989	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1976162	0.82[AMR][1000 genomes]
rs1991359	0.88[EUR][1000 genomes]
rs28429491	0.88[EUR][1000 genomes]
rs28650441	0.88[EUR][1000 genomes]
rs28656336	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28711402	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28809811	0.86[EUR][1000 genomes]
rs3808609	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3816846	0.80[AMR][1000 genomes]
rs55774738	0.88[EUR][1000 genomes]
rs56249776	0.80[AMR][1000 genomes]
rs59979442	0.82[EUR][1000 genomes]
rs6471729	0.87[EUR][1000 genomes]
rs6981601	0.88[EUR][1000 genomes]
rs6986129	0.88[EUR][1000 genomes]
rs7009248	0.88[EUR][1000 genomes]
rs7009374	0.88[EUR][1000 genomes]
rs7011095	0.81[EUR][1000 genomes]
rs7014398	0.87[EUR][1000 genomes]
rs72647424	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647434	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72647435	0.83[EUR][1000 genomes]
rs72647437	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817515	0.87[EUR][1000 genomes]
rs7825996	0.83[EUR][1000 genomes]
rs8192870	0.80[ASN][1000 genomes]
rs9297995	0.87[EUR][1000 genomes]
rs9297999	0.90[AMR][1000 genomes];0.85[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:9 , 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	chr8:59448800-59455200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:59451000-59455000	Enhancers	Fetal Brain Male	brain
4	chr8:59451000-59456400	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:59453000-59462200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:59453200-59456600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:59453200-59456600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:59453400-59455200	Weak transcription	Fetal Stomach	stomach
9	chr8:59453400-59457000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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