Variant report

Variant	rs1485300
Chromosome Location	chr8:120082253-120082254
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:120082175-120083235	Hela-S3	cervix:	n/a	chr8:120082906-120082925 chr8:120082916-120082923

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119755541..119756586-chr8:120081962..120083463,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254278	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11777125	0.84[ASN][1000 genomes]
rs11992453	0.86[ASN][1000 genomes]
rs13261635	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1385491	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1485291	0.87[ASN][1000 genomes]
rs1485292	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1485299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1905774	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450060	0.88[ASN][1000 genomes]
rs2450063	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450071	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2450073	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2450074	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2450075	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450077	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450079	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450081	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465386	0.85[ASN][1000 genomes]
rs2465388	0.87[ASN][1000 genomes]
rs2465389	0.87[ASN][1000 genomes]
rs2465397	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2468167	0.80[ASN][1000 genomes]
rs4279627	0.87[ASN][1000 genomes]
rs5005858	0.80[AMR][1000 genomes]
rs62532199	0.80[ASN][1000 genomes]
rs6469812	0.82[ASN][1000 genomes]
rs6469813	0.87[ASN][1000 genomes]
rs6469814	0.82[ASN][1000 genomes]
rs6469816	0.84[ASN][1000 genomes]
rs67749565	0.81[ASN][1000 genomes]
rs6991747	0.87[ASN][1000 genomes]
rs7013461	0.85[ASN][1000 genomes]
rs7386676	0.84[ASN][1000 genomes]
rs9650076	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3386171	chr8:120081021-120083019	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3338813	chr8:120081521-120082569	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120080000-120082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120080000-120082600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:120080600-120083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120080600-120085200	Weak transcription	Fetal Stomach	stomach
5	chr8:120080800-120084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:120082000-120082800	Enhancers	Hela-S3	cervix
7	chr8:120082200-120082600	Enhancers	NHDF-Ad	bronchial
8	chr8:120082200-120084400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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