Variant report

Variant	rs13250940
Chromosome Location	chr8:125814250-125814251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125812435..125816842-chr8:125817567..125822282,5	MCF-7	breast:
2	chr8:125810983..125812686-chr8:125813868..125815864,2	MCF-7	breast:
3	chr8:125807494..125809531-chr8:125811764..125814471,2	K562	blood:
4	chr8:125807877..125814693-chr8:125825913..125830602,6	K562	blood:
5	chr1:150953019..150955247-chr8:125814204..125815840,2	MCF-7	breast:
6	chr8:125791704..125794357-chr8:125812498..125814559,2	K562	blood:
7	chr8:125811755..125814591-chr8:125821770..125824096,2	MCF-7	breast:
8	chr8:125810899..125814693-chr8:125825780..125828735,5	K562	blood:

No data

No data

No data

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs35793758	1.00[ASN][1000 genomes]
rs57360261	1.00[ASN][1000 genomes]
rs72716935	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341884	1.00[ASN][1000 genomes]
rs73341898	1.00[ASN][1000 genomes]
rs73343904	1.00[ASN][1000 genomes]
rs73343908	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr8:125803400-125815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125809600-125814800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125811000-125815000	Weak transcription	HSMMtube	muscle
4	chr8:125811400-125820600	Weak transcription	Lung	lung
5	chr8:125812000-125816200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125813600-125815400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:125813800-125822400	Enhancers	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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