Variant report

Variant	rs9573570
Chromosome Location	chr13:76064409-76064410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1570539	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1570541	0.87[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs2328944	0.86[ASN][1000 genomes]
rs2328945	0.81[ASN][1000 genomes]
rs2328946	0.81[ASN][1000 genomes]
rs2328947	0.81[ASN][1000 genomes]
rs4142591	0.81[ASN][1000 genomes]
rs6562896	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7318786	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs7989804	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9318349	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9543946	0.98[EUR][1000 genomes]
rs9543947	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9565168	0.90[CHD][hapmap]
rs9565169	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9565170	0.81[ASN][1000 genomes]
rs9573571	0.81[ASN][1000 genomes]
rs961631	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9573570	BTF3L1	cis	cerebellum	SCAN
rs9573570	LMO7	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:76060600-76069400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:76063400-76065000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:76063400-76065000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:76063600-76064600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr13:76063600-76065000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:76063800-76068400	Weak transcription	Spleen	Spleen
8	chr13:76064000-76064600	Flanking Active TSS	GM12878-XiMat	blood
9	chr13:76064200-76064600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:76064200-76064600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:76064200-76064600	Enhancers	HepG2	liver
12	chr13:76064200-76064600	Enhancers	Osteobl	bone
13	chr13:76064200-76067200	Weak transcription	Liver	Liver
14	chr13:76064400-76064600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:76064400-76064600	Enhancers	Hela-S3	cervix
16	chr13:76064400-76064800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:76064400-76067400	Weak transcription	Adipose Nuclei	Adipose
18	chr13:76064400-76069800	Weak transcription	HSMM	muscle
19	chr13:76064400-76069800	Weak transcription	HSMMtube	muscle

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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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