Variant report

Variant	rs6986310
Chromosome Location	chr8:125285943-125285944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125284971..125286814-chr8:125291849..125294678,2	MCF-7	breast:
2	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
3	chr8:125283962..125286170-chr8:125287924..125291020,4	MCF-7	breast:
4	chr8:125279696..125281891-chr8:125285481..125287551,2	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087062	0.88[EUR][1000 genomes]
rs10087137	0.88[EUR][1000 genomes]
rs10087222	0.88[EUR][1000 genomes]
rs10087374	0.88[EUR][1000 genomes]
rs10091808	0.85[EUR][1000 genomes]
rs10092616	0.89[EUR][1000 genomes]
rs13439237	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13439439	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13439443	0.81[ASN][1000 genomes]
rs17295226	0.89[EUR][1000 genomes]
rs17295548	0.88[EUR][1000 genomes]
rs17360746	0.88[EUR][1000 genomes]
rs17360788	0.89[EUR][1000 genomes]
rs4374970	0.87[EUR][1000 genomes]
rs4504618	0.89[EUR][1000 genomes]
rs4593526	0.89[EUR][1000 genomes]
rs4871476	0.89[EUR][1000 genomes]
rs4871477	0.86[EUR][1000 genomes]
rs4871478	0.89[EUR][1000 genomes]
rs4871480	0.89[EUR][1000 genomes]
rs4871481	0.89[EUR][1000 genomes]
rs4871482	0.89[EUR][1000 genomes]
rs55784871	0.87[EUR][1000 genomes]
rs55932688	0.86[ASN][1000 genomes]
rs55945711	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56068026	0.88[EUR][1000 genomes]
rs56234976	0.80[ASN][1000 genomes]
rs56383080	0.87[EUR][1000 genomes]
rs60167901	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60995425	0.89[EUR][1000 genomes]
rs66467223	0.89[EUR][1000 genomes]
rs66961607	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67153514	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67712436	0.89[EUR][1000 genomes]
rs67815046	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs68047305	0.88[EUR][1000 genomes]
rs6984141	0.89[EUR][1000 genomes]
rs6984458	0.87[EUR][1000 genomes]
rs6984642	0.88[EUR][1000 genomes]
rs6984921	0.88[EUR][1000 genomes]
rs7003974	0.89[EUR][1000 genomes]
rs7011052	0.89[EUR][1000 genomes]
rs7011213	0.89[EUR][1000 genomes]
rs7011528	0.89[EUR][1000 genomes]
rs72719397	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73330303	0.80[ASN][1000 genomes]
rs73330304	0.80[ASN][1000 genomes]
rs73345185	0.80[ASN][1000 genomes]
rs7842882	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297693	0.86[EUR][1000 genomes]
rs9643192	0.85[EUR][1000 genomes]
rs9969472	0.88[EUR][1000 genomes]
rs9969473	0.89[EUR][1000 genomes]
rs9969475	0.88[EUR][1000 genomes]
rs9969479	0.88[EUR][1000 genomes]
rs9969480	0.87[EUR][1000 genomes]
rs9969624	0.87[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6986310	RP11-383J24.1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
2	chr8:125284400-125286800	Weak transcription	HSMMtube	muscle
3	chr8:125284600-125290200	Weak transcription	Psoas Muscle	Psoas
4	chr8:125285000-125286200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125285400-125286600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:125285400-125287000	Enhancers	Hela-S3	cervix
7	chr8:125285600-125286200	Enhancers	A549	lung

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