Variant report

Variant	rs55932688
Chromosome Location	chr8:125285013-125285014
allele	A/G
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	chr8:125258129..125260887-chr8:125283574..125285765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction
ENSG00000214803	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087001	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10089870	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099103	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13439237	0.87[ASN][1000 genomes]
rs13439439	0.86[ASN][1000 genomes]
rs13439443	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17360690	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17360711	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17361004	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28371029	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28634212	0.82[AFR][1000 genomes]
rs4871483	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56218959	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56234976	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983392	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6986310	0.86[ASN][1000 genomes]
rs6988141	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7003238	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73330303	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73330304	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345110	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73345113	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73345158	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73345172	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73345176	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73345185	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842882	0.90[ASN][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
rs55932688	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
2	chr8:125282200-125285600	Enhancers	NHDF-Ad	bronchial
3	chr8:125282800-125285400	Flanking Active TSS	Hela-S3	cervix
4	chr8:125282800-125285400	Enhancers	NHLF	lung
5	chr8:125282800-125285600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:125283200-125285600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:125283400-125285400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:125284000-125285200	Enhancers	Right Ventricle	heart
9	chr8:125284000-125285600	Flanking Active TSS	A549	lung
10	chr8:125284200-125285200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:125284400-125285800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125284400-125285800	Enhancers	Osteobl	bone
13	chr8:125284400-125286800	Weak transcription	HSMMtube	muscle
14	chr8:125284600-125290200	Weak transcription	Psoas Muscle	Psoas
15	chr8:125284800-125285800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:125285000-125285400	Enhancers	NH-A	brain
17	chr8:125285000-125285800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:125285000-125286200	Enhancers	Skeletal Muscle Female	skeletal muscle

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